Neuroacanthocytosis is a general term for a group of rare progressive disorders characterized by the association of misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. Chorea, which is c...

Seborrheic Keratosis is a skin disorder usually characterized by discolored lesions that appear to be "stuck on" the skin surface. Warts may appear and skin is often oily or greasy. These skin lesions are sometimes mistaken for cancerous growths a...

Achalasia is a rare disease of the muscle of the esophagus (swallowing tube). The term achalasia means "failure to relax" and refers to the inability of the lower esophageal sphincter (a ring of muscle situated between the lower esophagus and the ...

Achard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown....

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the b...

An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also know...

What Is Tobacco Addiction? When people are addicted, they have a compulsive need to seek out and use a substance, even when they understand the harm it can cause. Tobacco products -- cigarettes, cigars, pipes, and smokeless tobacco -- can ...

What Is Tobacco Addiction? When people are addicted, they have a compulsive need to seek out and use a substance, even when they understand the harm it can cause. Tobacco products -- cigarettes, cigars, pipes, and smokeless tobacco -- can ...

Ahumada-Del Castillo is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and hypothalamus glands. Symptoms may include the production of breast milk (lactation) not associated...

Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of...

The term albinism typically refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA) — a group of inherited disorders where there is little or no production of the pigment melanin. The type and amount of melanin your body produces de...

Primary aldosteronism (al-DOS-tuh-ro-niz-um) is a type of hormonal disorder that leads to high blood pressure. Your adrenal glands produce a number of essential hormones. One of these is aldosterone, which balances sodium and potassium in your blo...

Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentatio...

Amenorrhea facts Amenorrhea refers to the absence of menstrual periods; it may be either primary (meaning a woman never developed menstrual periods) or secondary (absence of menstrual periods in a woman who was previously menstruati...

What is sickle cell anemia? Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (...

What is sickle cell anemia? Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (...

What is aortic stenosis? Aortic stenosis is abnormal narrowing of the aortic valve. A number of conditions cause disease resulting in narrowing of the aortic valve. When the degree of narrowing becomes significant enough to impede the flow...

Aortic stenosis is abnormal narrowing of the aortic valve. A number of conditions cause disease resulting in narrowing of the aortic valve. When the degree of narrowing becomes significant enough to impede the flow of blood from the left ventricle...

Jejunal Atresia is a rare genetic disorder. Patients with this disorder are born with a partial absence of the fold of the stomach membrane that connects the small intestine to the back wall of the abdomen. As a result, one of the three portions o...

Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from th...

Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from th...

Ahumada-Del Castillo is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and hypothalamus glands. Symptoms may include the production of breast milk (lactation) not associated...

What is arsenic? Arsenic is a grey-appearing chemical element (atomic number 33, symbol As in the periodic table) also termed a metalloid. Arsenic can exist in a metallic state in three forms (yellow, black, and gray; with gray predominati...

Ascites is the accumulation of fluid (usually serous fluid which is a pale yellow and clear fluid) in the abdominal (peritoneal) cavity. The abdominal cavity is located below the chest cavity, separated from it by the diaphragm. Ascitic fluid can ...

Auditory Processing Disorder (APD) is a complex problem. The term is used by many people, in very different ways. There is research underway to help understand this disorder. There also is research to investigate therapies that will help individua...

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac sympto...

Froehlich syndrome is a constellation of endocrine abnormalities believed to result from damage to the hypothalamus, a part of the brain where certain functions such as sleep cycles and body temperature are regulated. Froehlich syndrome appears to...

Bacterial vaginosis (BV) is a common vaginal infection caused by an imbalance of bacteria in the vagina. Normally, the vagina contains a balance of good and harmful bacteria. However, when the harmful bacteria outnumber the good bacteria, it can l...

Balantidiasis is a rare intestinal infection caused by the bacterium, Balantidium coli, a single celled parasite (ciliate protozoan) that frequently infects pigs but on occasion (rarely) infects humans. Some infected people may have no symptoms or...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...

Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case. However, in many individuals, associated features ...

Encephaloceles are rare birth defects associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain sticks out (protrudes). In some cases, cerebrospinal fluid or the membranes that...

Polycystic ovary syndrome (PCOS) affects women and is a complex of symptoms that are not necessarily all present in all cases. Some, but not all, affected women have multiple cysts on the ovaries (polycystic ovaries). Other characteristics include...

Cyclic vomiting syndrome (CVS) is a rare disorder characterized by recurrent, similar episodes of severe nausea and vomiting. An episode may last for a few hours to several days and then is followed by a period of time during which affected indivi...

Hairy tongue is an uncommon, benign condition that is also known as black hairy tongue or lingua nigra. It is characterized by abnormal elongation and blackish or dark brownish discoloration or "staining" of the thread-like elevations (filiform pa...

Bladder infection is an infection of the bladder. Bladder infection is also called cystitis and is a type of urinary tract infection (UTI). The urinary tract is naturally sterile and when microbes invade it, an infection may result. The bl...

Bladder infection is an infection of the bladder. Bladder infection is also called cystitis and is a type of urinary tract infection (UTI). The urinary tract is naturally sterile and when microbes invade it, an infection may result. The bl...

Blepharitis is an inflammation of the eyelids. It is a common condition that can cause redness, itching, burning, and a gritty sensation in the eyes. It can also cause the eyelids to become swollen, crusty, and flaky. Blepharitis is usually caused...

Benign essential blepharospasm (BEB) is a rare neurological disorder in which affected individuals experience involuntary muscle spasms and contractions of the muscles around the eyes. These spasms come and go (intermittent). Symptoms may begin as...

A blocked tear duct is a condition in which the tear ducts, which normally drain tears from the eyes, become blocked or narrowed. This can cause tears to build up in the eyes, leading to watery eyes, irritation, and other symptoms. Treatment for a...

Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failur...

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these am...

Branchio-oculo-facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth (congenital). As of 2004, only about 50 cases of BOFS had been reported in the medical literature. The symptoms of most BOFS patients include the proli...

Facing a breast cancer diagnosis can be overwhelming. Your stress levels may skyrocket. You may worry about finances. And you may be asking yourself difficult questions, such as whether to write a living will. Education and supportive care can hel...

Facing a breast cancer diagnosis can be overwhelming. Your stress levels may skyrocket. You may worry about finances. And you may be asking yourself difficult questions, such as whether to write a living will. Education and supportive care can hel...

Bronchitis is an infection that causes irritation and inflammation in the lungs' major airways (bronchi). Bronchitis is divided into two types: acute and chronic. Chronic bronchitis is a long-term condition that can reoccur. Long-term stress, such...

Bronchitis is an infection that affects the lungs' major airways (bronchi), causing irritation and inflammation. Bronchitis can be classified into two types: acute and long-term. Chronic bronchitis is a long-term problem that can come back. It is usu...

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and resu...

Clubfoot is a general term used to describe a group of deformities of the ankles and/or feet that are usually present at birth (congenital). The defect may be mild or severe and may affect one or both of the ankles and/or feet. Different forms of ...

Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; oth...

Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; oth...

Gordon syndrome is an extremely rare disorder that belongs to a group of genetic disorders known as the distal arthrogryposes. These disorders typically involve stiffness and impaired mobility of certain joints of the lower arms and legs (distal e...

Camptomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; ot...

Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separat...

General DiscussionPentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternu...

Celiac disease, sometimes called celiac sprue or gluten-sensitive enteropathy, i...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Congenital hypomyelination neuropathy (CHN) is a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone (neonatal hypotonia), absence of reflexes (areflexia),...

Hajdu-Cheney syndrome (HCS) is a rare, heritable disorder of connective tissue; only about 50 cases have been reported in the medical literature. The breakdown of bone (osteolysis), especially the outermost bones of the fingers and toes (acroosteo...

Chiari-Frommel Syndrome is a rare endocrine disorder that affects women who have recently given birth (postpartum) and is characterized by the over-production of breast milk (galactorrhea), lack of ovulation (anovulation), and the absence of regul...

Chiari-Frommel Syndrome is a rare endocrine disorder that affects women who have recently given birth (postpartum) and is characterized by the over-production of breast milk (galactorrhea), lack of ovulation (anovulation), and the absence of regul...

Chickenpox (varicella) is a viral infection that causes an itchy rash with small, fluid-filled blisters. Chickenpox is highly contagious to people who haven't had the disease or been vaccinated against it. Before routine chickenpox vaccination, vi...

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side...

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side...

Giant axonal neuropathy is a rare neuropathy that severely affects the peripheral as well as the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central ne...

An epidemic is defined as occurring when "new cases of a certain disease, in a given human population during a given time period, substantially exceed what is expected based upon recent experience." Pediatric obesity has reached epidemic proportio...

Congenital hypomyelination neuropathy (CHN) is a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone (neonatal hypotonia), absence of reflexes (areflexia),...

General DiscussionWildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); ab...

Coffin-Siris syndrome is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal ...

Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalit...

For many parents, there is nothing more stressful than listening to an inconsolably crying newborn. Colic generally leads to long stretches of such crying. It can be a very difficult for parents, friends, and family who are already dealing with on...

Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease ...

Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease (IBD) that causes inflammation and ulcers (sores) in your digestive tract. Ulcerative colitis affects the innermost lining of your large intestine (colon) and rectum. ...

What are congenital heart defects? Congenital (kon-JEN-ih-tal) heart defects are problems with the heart's structure that are present at birth. These defects can involve: The interior walls of the heart The valves ...

What is congestive heart failure (CHF)? Heart failure describes the inability or failure of the heart to adequately meet the needs of organs and tissues for oxygen and nutrients. This decrease in cardiac output, the amount of blood that th...

Contact dermatitis facts Contact dermatitis is a rash that occurs at the site of exposure to a substance capable of producing an allegic or irritant skin response. Contact dermatitis can be caused by noxious, irritating su...

Corneal abrasion is a condition in which the outer layer of the cornea (the clear, dome-shaped surface that covers the front of the eye) is scratched or scraped. It is a common eye injury that can cause pain, redness, tearing, and light sensitivit...

Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and remova...

Encephaloceles are rare birth defects associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain sticks out (protrudes). In some cases, cerebrospinal fluid or the membranes that...

Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the ha...

Encephaloceles are rare birth defects associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain sticks out (protrudes). In some cases, cerebrospinal fluid or the membranes that...

Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, invariably fatal brain disorder. It affects about one person in every one million people per year worldwide; in the United States there are about 200 cases per year. CJD usually appears in l...

Crohn's disease facts Crohn's disease is a chronic inflammatory disease of the intestines. The cause of Crohn's disease is unknown. Crohn's disease can cause ulcers in the small intestine, colon, or both. ...

Cronkhite-Canada syndrome (CCS) is a very rare disease with symptoms that include loss of taste, intestinal polyps, hair loss, and nail growth problems. It is difficult to treat because of malabsorption that accompanies the polyps. CCS occurs prim...

Gianotti-Crosti Syndrome is a rare skin disease affecting children between the ages of nine months and nine years. Major symptoms may include blisters on the skin of the legs, buttocks and arms. The disorder is usually preceded by a viral infectio...

Atypical mole syndrome, also called dysplastic nevus syndrome, is a disorder of the skin characterized by the presence of many mole-like tumors (nevi). Most people have 10-20 moles over their bodies. People with this syndrome often have more than ...

Cutis laxa is rarely encountered and may occur in several inherited (congenital) forms or come about in the course of another disorder (acquired). It is a connective tissue disorder characterized by skin that is loose (lax), hanging, wrinkled, and...

Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic....

Dandy-Walker malformation (DWM) is a brain malformation that occurs during embryonic development of the cerebellum and 4th ventricle. The cerebellum is the area of the brain that helps coordinate movement, and is also involved with cognition and b...

Dandy-Walker malformation (DWM) is a brain malformation that occurs during embryonic development of the cerebellum and 4th ventricle. The cerebellum is the area of the brain that helps coordinate movement, and is also involved with cognition and b...

Dandy-Walker malformation (DWM) is a brain malformation that occurs during embryonic development of the cerebellum and 4th ventricle. The cerebellum is the area of the brain that helps coordinate movement, and is also involved with cognition and b...

Dandy-Walker malformation (DWM) is a brain malformation that occurs during embryonic development of the cerebellum and 4th ventricle. The cerebellum is the area of the brain that helps coordinate movement, and is also involved with cognition and b...

Microvillus inclusion disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorpti...

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to th...

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to th...

Locked-in syndrome is a rare neurological disorder in which there is complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. Individuals with locked-in syndrome are conscious and awake, but have no a...

Clinical depression in the elderly is common. Although, that doesn't mean it's normal. Late-life depression affects about 6 million Americans age 65 and older. But only 10% receive treatment for depression. The likely reason is that the elderly of...

Diabetes facts Diabetes is a chronic condition associated with abnormally high levels of sugar (glucose) in the blood. Insulin produced by the pancreas lowers blood glucose. Absence or insufficient production of ...

What is the difference between diabetes insipidus and diabetes mellitus Diabetes insipidus should not be confused with diabetes mellitus (DM), which results from insulin deficiency or resistance leading to high blood glucose, also called b...

What is the difference between diabetes insipidus and diabetes mellitus Diabetes insipidus should not be confused with diabetes mellitus (DM), which results from insulin deficiency or resistance leading to high blood glucose, also called b...

Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder that may be inherited or acquired. NDI is not related to the more common diabetes mellitus (sugar diabetes), in which the body does not produce or properly use insulin. NDI is a distin...

Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder that may be inherited or acquired. NDI is not related to the more common diabetes mellitus (sugar diabetes), in which the body does not produce or properly use insulin. NDI is a distin...

Urine tests for diabetes facts Urine tests may be done in people with diabetes to evaluate severe hyperglycemia (severe high blood sugar) by looking for ketones in the urine. Ketones are a metabolic product produced when fat...

Urine tests for diabetes facts Urine tests may be done in people with diabetes to evaluate severe hyperglycemia (severe high blood sugar) by looking for ketones in the urine. Ketones are a metabolic product produced when fat...

Type 2 diabetes is an impairment in the way the body regulates and uses sugar (g...

Achard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown....

Diabetic ketoacidosis is a serious complication of diabetes that occurs when you...

Diabetic ketoacidosis is a serious complication of diabetes that occurs when you...

Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Af...

Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient. Symptoms typically include digestive disturbances, fever, irritability and visual difficulties. Some...

Dry eye is a condition in which the eyes do not produce enough tears or the tears evaporate too quickly. This can cause irritation, redness, and a feeling of dryness in the eyes. Dry eye can be caused by a variety of factors, including environment...

Dubin Johnson Syndrome is a rare genetic liver disorder that tends to affect people of Middle Eastern Jewish heritage disproportionately to other groups. It appears to be associated with clotting factor VII in this population. Symptoms may include...

Duodenal atresia or stenosis is a rare congenital digestive disorder that usually occurs for no apparent reason (sporadically). However, a few cases of duodenal atresia have been inherited as an autosomal recessive genetic trait. Duode...

Alexander disease is named after the physician who first described the condition in 1949 (WS Alexander). It is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early ch...

Conradi-Hunermann syndrome is a rare genetic disorder characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. Con...

Dysthymia, now referred to as persistent depressive disorder, is a form of depression that lasts more than two years at a time in adults and more than one year at a time in children and adolescents. Dysthymia can afflict 3%-6% of th...

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, str...

Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings as...

Trisomy 18 syndrome is a rare chromosomal disorder in which all or a critical region of chromosome 18 appears three times (trisomy) rather than twice in cells of the body. In some cases, the chromosomal abnormality may be present in only a percent...

Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a conditi...

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, str...

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and dist...

Pancreatic neuroendocrine neoplasms (pNENs) are an increasingly common group of malignancies that arise within the endocrine tissue of the pancreas. Endocrine tissue is specialized tissue that contains hormone-secreting cells. These cells secrete ...

Atrioventricular septal defect (ASVD) is a general term for a group of rare heart defects that are present at birth (congenital). Infants with ASVDs have improperly developed atrial and ventricular septa and adjoining valves. The norma...

Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (ine...

Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (ine...

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Epidermolytic ichthyosis (EI) specifically refers to a hereditary skin disorder that is characterized by varying degrees of blistering and subsequent reactive scaling of the skin. The underlying histopathology shows mid-epidermal splitting and hyp...

The largest part of the brain, the cerebrum, is divided into four paired sections -- the frontal, parietal, occipital, and temporal lobes. Each lobe controls a specific group of activities. The temporal lobe, located on either side of the brain ju...

The largest part of the brain, the cerebrum, is divided into four paired sections -- the frontal, parietal, occipital, and temporal lobes. Each lobe controls a specific group of activities. The temporal lobe, located on either side of the brain ju...

Eye allergies, also known as allergic conjunctivitis, are a type of allergic reaction that affects the eyes. Symptoms of eye allergies include redness, itching, burning, tearing, and swelling of the eyes. Eye allergies are usually caused by airbor...

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A. A mutation in the...

Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; large head (macrocephaly); a prominent forehead and abnormal narrowing of the sides o...

Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disab...

Peeling skin syndrome is a rare inherited skin disorder characterized by painless, continual, spontaneous skin peeling (exfoliation). Other findings may include blistering and/or reddening of the skin (erythema) and itching (pruritus). Peeling ski...

Fibrocystic breast changes  Fibrocystic breast changes lead to the development of fluid-filled round or oval sacs (cysts) and more prominent scar-like (fibrous) tissue, which can make breasts feel tender, lumpy or ropy. Fibroc...

Endomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities (the endocardium) of one or bot...

General DiscussionWeil syndrome, a rare infectious disorder, is a severe form of the bacterial infection caused by Leptospira bacteria known as leptospirosis. Weil syndrome is characterized by dysfunction of the kidneys and liver, abnorma...

Coffin-Siris syndrome is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal ...

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare skin disorder that can also affect bone and eye development. If is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to ...

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare skin disorder that can also affect bone and eye development. If is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to ...

Formaldehyde Poisoning is a disorder brought about by breathing the fumes of formaldehyde. This can occur while working directly with formaldehyde, or using equipment cleaned with formaldehyde. Major symptoms may include eye, nose, and throat irri...

Formaldehyde Poisoning is a disorder brought about by breathing the fumes of formaldehyde. This can occur while working directly with formaldehyde, or using equipment cleaned with formaldehyde. Major symptoms may include eye, nose, and throat irri...

Formaldehyde is a transitional molecule that participates in a wide range of biological activities. It can be found in a variety of everyday items, including meals. It's also used in medicine to treat a variety of ailments. Formalin is a 40 percen...

Fountain syndrome is an extremely rare inherited disorder that is characterized by mental retardation; abnormal swelling of the cheeks and lips due to the excessive accumulation of body fluids under the skin (subcutaneous) of the face (edema); ske...

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby stru...

Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative s...

Froehlich syndrome is a constellation of endocrine abnormalities believed to result from damage to the hypothalamus, a part of the brain where certain functions such as sleep cycles and body temperature are regulated. Froehlich syndrome appears to...

Chiari-Frommel Syndrome is a rare endocrine disorder that affects women who have recently given birth (postpartum) and is characterized by the over-production of breast milk (galactorrhea), lack of ovulation (anovulation), and the absence of regul...

Fructosuria is a rare but benign inherited metabolic disorder. It is characterized by the excretion of fruit sugar (fructose) in the urine. Normally, no fructose is excreted in the urine. This condition is caused by a deficiency of the enzyme fruc...

Fungal keratitis is an infection of the cornea, the clear outer layer of the eye, caused by a fungus. It is a rare but serious condition that can cause vision loss if not treated promptly. Symptoms of fungal keratitis include redness, pain, blurre...

A prolactinoma is a benign tumor of the pituitary gland (adenoma) that produces an excessive amount of the hormone prolactin. In women, hyperprolactinemia is characterized by irregular menstrual periods (amenorrhea), infertility and production of ...

Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure ...

Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure ...

Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure ...

Mucolipidosis IV is a rare inherited metabolic disorder believed to be characterized by a deficiency of transport channel receptor protein, based upon the recent discovery of the Mucolipidosis IV gene. This deficiency may lead to the accumulation ...

Gangrene facts Gangrene refers to dead or dying body tissue(s) that occur because of inadequate blood supply. There are two major types of gangrene, wet gangrene and dry gangrene. Dry gangrene can result from con...

Generalized anxiety disorder (GAD) is a mood disorder that is characterized by multiple and/or nonspecific worries that interfere with the person's life in some way. The most common anxiety disorders are specific phobias. Besides ge...

Aniridia, cerebellar ataxia, and mental deficiency, also known as Gillespie syndrome, is an extremely rare inherited disorder that is characterized by the absence, in whole (aniridia) or in part (partial aniridia), of the colored portion (iris) of...

Erythrokeratodermia with ataxia (EKDA) is a hereditary disorder of the skin and nervous system (neurocutaneous syndrome) characterized by groups of hard, red plaques that develop during infancy and childhood. When these skin lesions heal, the diso...

Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure ...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the b...

Andersen disease belongs to a group of rare genetic disorders of glycogen metabolism, known as glycogen storage diseases. Glycogen is a complex carbohydrate that is converted into the simple sugar glucose for the body's use as energy. Glycogen sto...

Fabry disease is a rare genetic disorder of fat (lipid) metabolism characterized by a deficiency of the enzyme alpha-galactosidase A (previously known as ceramide trihexosidase). The disorder belongs to a group of diseases known as lysosomal stora...

Gonorrhea is a bacterial infection that is transmitted during sexual activity. Gonorrhea is not transmitted from toilet seats. Women infected with gonorrhea may not have any symptoms. Gonorrhea is treated with an...

Grover's disease is a rare, transient skin disorder that consists of small, firm, raised red lesions, most often on the skin of the chest and back. Diagnosis of this disorder becomes apparent under microscopic examination when the loss of the "cem...

Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase (UROS), the fourth enzyme in the heme biosynthetic pathway. Due to the impair...

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control with autonomic nervous system dysregulation (ANSD). The autonomic nervous system is the portion of the nervous system that controls or regulates certain i...

Haemophilus influenzae type b (Hib) is a type of bacteria that can cause serious infections, particularly in young children. It can lead to illnesses such as meningitis, pneumonia, and epiglottitis. The Hib vaccine is highly effective in preventin...

Trichotillomania (trik-o-til-o-MAY-nee-uh), also called hair-pulling disorder, is a mental disorder that involves recurrent, irresistible urges to pull out hair from your scalp, eyebrows or other areas of your body, despite trying to stop. ...

Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative s...

Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative s...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to ...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Chromosome 10, monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable, depending upon t...

Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor...

Hashimoto's thyroiditis is also known as Chronic Lymphocytic Thyroiditis, Hashimoto's Thyroiditis, and Chronic Autoimmune Thyroiditis. The thyroid gland gradually stops producing enough hormones to keep the body running normally as a result of Has...

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, is a rare inherited disorder that belongs to a group of disorders known as the ectodermal dysplasias. Major characteristics of Hay-Wells syndrome inclu...

According to the American Heart Association, about 5 million Americans are diagnosed with valvular heart disease each year. What Is Valvular Heart Disease? Heart valve disease occurs when your heart's valves do not work the way the...

What Is a Biventricular Pacemaker? Leads are implanted through a vein into the right ventricle and into the coronary sinus vein to pace or regulate the left ventricle. Usually (but not always), a lead is also implanted into the right atriu...

What Is a Biventricular Pacemaker? Leads are implanted through a vein into the right ventricle and into the coronary sinus vein to pace or regulate the left ventricle. Usually (but not always), a lead is also implanted into the right atriu...

Introduction to heart transplant The idea of replacing a bad organ with a good one has been documented in ancient mythology. The first real organ transplants were probably skin grafts that may have been done in India as early as the second...

Hepatorenal syndrome (HRS) is a form of impaired kidney function that occurs in individuals with advanced liver disease. Individuals with hepatorenal syndrome do not have any identifiable cause of kidney dysfunction and the kidneys themselves are ...

Herpes Keratitis is an infection of the cornea caused by the herpes simplex virus (HSV). It is a common cause of corneal blindness and can cause severe vision loss if left untreated. Symptoms of Herpes Keratitis include redness, pain, light sensit...

Heterochromia is a condition in which a person has two different colored eyes. It can be caused by genetics, injury, or disease....

Papular urticaria, usually called hives, is characterized by large numbers of very itchy red bumps (papules) that come and go every few days over a period of a month or so. The bumps are usually between 0.2 and 2 cm. in size and some may develop i...

Adie Syndrome is a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is dilated (larger than normal) and slow to react to light on nearby objects. In some patients, however, the pupil may be constricted (smaller...

Biotinidase deficiency (BTD) is a treatable, metabolic disorder that is the result of a low concentration, or complete lack, of the enzyme, biotinidase. Biotinidase deficiency is an inherited disorder in which the body is not able to properly proc...

Holoprosencephaly (HPE) is the failure of the prosencephalon, or forebrain, to develop normally. The forebrain is a region of the brain in the fetus that develops into parts of the adult brain, including the cerebral cortex. Instead of the normal ...

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may...

Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failur...

Hydranencephaly is a central nervous system disorder characterized by an enlarged head and neurological deficits. The exact cause of Hydranencephaly is not known. This extremely rare form of Hydrocephalus involves the absence of portions of the br...

Hydrocephalus is a condition characterized by excessive accumulation of fluid in the brain. Hydrocephalus may be congenital or acquired. Communicating hydrocephalus occurs when cerebrospinal fluid (CSF) can still flow amon...

Bartter's syndrome (BS) is a group of conditions involving enlargement of certain kidney cells, blood that is more alkaline than normal, high levels of potassium and chloride in the urine, loss of potassium from the kidneys (renal potassium wastin...

Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and remova...

Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of n...

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and dist...

Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterized by improper breakdown (metabolism) of certain fatty materials known as lipids, specifically cholesterol and triglyc...

High blood sugar (hyperglycemia) affects people who have diabetes. Several facto...

Hypoglycemia is the clinical syndrome that results from low blood sugar. The symptoms of hypoglycemia can vary from person to person, as can the severity. Classically, hypoglycemia is diagnosed by a low blood sugar with symptoms that resolve when ...

Thyroid disease is particularly common in women of child-bearing age. As a result, it is no surprise that thyroid disease may complicate the course of pregnancy. Frequency varies among different populations and different c...

IBS triggers and prevention facts Foods and drinks that dehydrate the body can trigger constipation in IBS patients. Fatty foods can trigger diarrhea in people with IBS; others may also do so but specific food triggers of di...

Cogan-Reese Syndrome is an extremely rare eye disorder characterized by a matted or smudged appearance to the surface of the iris; the development of small colored lumps on the iris (nodular iris nevi); the attachment of portions of the iris to th...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Erythrokeratolysis hiemalis is an extremely rare form of ichthyosis that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has been determined. The disorder is charac...

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal...

Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin disorder that affects men predominately and is characterized by hardening of the skin (keratosis) in several parts of the body. Most frequently, the face, neck, and forea...

Netherton syndrome is a rare hereditary disorder characterized by scaling skin, hair anomalies, increased susceptibility to atopic eczema (a skin condition that can result in dry, red and flaky skin), elevated IgE levels, and other related symptom...

Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Af...

Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Af...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

General DiscussionPediatric cardiomyopathy is a rare heart condition that affects infants and children. Specifically, cardiomyopathy means disease of the heart muscle (myocardium). Several different types of cardiomyopathy exist and the s...

The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia. The W...

Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the develo...

Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. Antibodies are proteins (immunoglobulins, (IgM), (IgG)...

Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells t...

Incontinentia Pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. Progressive skin changes occur in four stages, the first of which appear in early infancy or can be present at birth...

Congenital generalized fibromatosis (CGF) is a pediatric condition that is often now referred to as "infantile myofibromatosis" (IM). It is characterized by the formation of single or multiple noncancerous (benign) tumors that appear to be derived...

Santavuori disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These disorders share certain similar symptoms and are distinguished in part by ...

Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (P...

Apnea is a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow ...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

Santavuori disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These disorders share certain similar symptoms and are distinguished in part by ...

Infertility means not being able to become pregnant, within certain parameters. Infertility is a common problem of about 10% of women aged 15 to 44. Infertility can be due to the woman (33%), the man (33%) and by both sexe...

Insulin is a hormone that is produced by the beta cells of the pancreas. These cells are scattered throughout the pancreas in small clusters known as the islets of Langerhans. The insulin produced is released into the blood stream and travels thro...

Intertrigo is a dermatitis that only affects skin folds. Intertrigo is caused when skin is irritated by friction, which is enhanced by moisture and heat. Risk factors for intertrigo include obesity, heat, and humidity....

What is the definition of irritable bowel syndrome (IBS)? Irritable bowel syndrome (IBS) is a gastrointestinal disorder characterized by the presence of a cluster of symptoms and signs in adult or children that include cramping, abdominal ...

Hypomelanosis of Ito is a rare condition characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). These skin changes may present as patches, streaks or spiral-shaped (whorled) areas. In many cases, ...

Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected ind...

Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected ind...

Jarcho-Levin syndrome is a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency, and/or other abnormalities. Infants born with Jarcho-Levin syndrome have...

A keloid scar forms from abnormal healing, and usually develops in people 10 to 20 years old. A keloid, or keloid scar, is a kind of overgrown scar, or an overly aggressive healing response to a wound. It's a type of thick, irregul...

Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness ...

Erythrokeratolysis hiemalis is an extremely rare form of ichthyosis that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has been determined. The disorder is charac...

Keratosis follicularis, also known as Darier disease, is a rare, genetic skin disorder. Affected individuals develop skin lesions that consist of thickened, rough bumps (papules) or plaques that may also be greasy or have a brown or yellow crust. ...

Meleda disease is an extremely rare inherited skin disorder characterized by the slowly progressive development of dry, thick patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis). Affected skin may be unusu...

Keratosis pilaris (KP) facts Keratosis pilaris is a very common, benign skin disorder that affects adolescents and adults. Keratosis pilaris causes numerous small, rough, tan or red little bumps around hair follicles on th...

Seborrheic Keratosis is a skin disorder usually characterized by discolored lesions that appear to be "stuck on" the skin surface. Warts may appear and skin is often oily or greasy. These skin lesions are sometimes mistaken for cancerous growths a...

Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness ...

Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic....

Kohler disease is a rare bone disorder of the foot in children that may be the result of stress-related compression at a critical time during the period of growth. It is characterized by limping caused by pain and swelling in the foot. It most oft...

Kugelberg Welander syndrome is a milder type of spinal muscular atrophy. It is a rare inherited neuromuscular disorder characterized by wasting and weakness in the muscles of the arms and legs, leading to walking difficulties in, and eventual loss...

Kyphosis facts There are three main types of kyphosis: postural, Scheuermann's, and congenital. Most cases of kyphosis do not require any treatment. Physical therapy and exercise are often effective in postural a...

Granuloma annulare is a chronic degenerative skin disorder. The most common form is localized granuloma annulare, which is characterized by the presence of small, firm red or yellow colored bumps (nodules or papules) that appear arranged in a ring...

Lichen Planus is a rare, recurrent, itchy rash or area of inflammatory eruptions (lesions) of unknown origin characterized by shiny reddish-purple spots on the skin and gray-white ones in the mouth. The disorder may present as itchy spots on the w...

Papular urticaria, usually called hives, is characterized by large numbers of very itchy red bumps (papules) that come and go every few days over a period of a month or so. The bumps are usually between 0.2 and 2 cm. in size and some may develop i...

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal...

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal...

Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases d...

Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the develo...

Congenital syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not become apparent until several weeks or months after birth and, in so...

Hereditary lymphedema is a genetic developmental disorder affecting the lymphatic system. It is characterized by swelling (edema) of certain parts of the body. The lymphatic system is a circulatory network of vessels, ducts, and nodes that filter ...

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressi...

Noonan syndrome is a common genetic disorder that is typically evident at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals,...

Atypical mole syndrome, also called dysplastic nevus syndrome, is a disorder of the skin characterized by the presence of many mole-like tumors (nevi). Most people have 10-20 moles over their bodies. People with this syndrome often have more than ...

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby stru...

Menopause is defined as the absence of menstrual periods for 12 months. It is the time in a woman's life when the function of the ovaries ceases. The process of menopause does not occur overnight, but rather is a gradual process. Th...

Menopause is defined as the absence of menstrual periods for 12 months. It is the time in a woman's life when the function of the ovaries ceases. The process of menopause does not occur overnight, but rather is a gradual process. Th...

Megalocornea-mental retardation (MMR) syndrome, otherwise known as Neuhauser syndrome, is an extremely rare genetic disorder characterized by distinctive abnormalities of the eye, several degrees of cognitive impairment, and a wide variety of addi...

Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted (monosomic). The disorder is typically characterized by short stature, variable degrees of mental retardation, speech ...

Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable. However, associated...

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), c...

Hyperostosis Frontalis Interna is characterized by the thickening of the frontal bone of the skull. It is not clear that this disorder is actually rare. Some clinicians believe that it may be a common abnormality found in as many as 12 percent of ...

Motor neuron disease comprises a group of severe disorders of the nervous system characterized by progressive degeneration of motor neurons (neurons are the basic nerve cells that combine to form nerves). Motor neurons control the behavior of musc...

The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. H...

Pseudomyxoma peritonei is a rare malignant growth characterized by the progressive accumulation of mucus-secreting (mucinous) tumor cells within the abdomen and pelvis. The disorder develops after a small growth (polyp) located within the appendix...

The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. H...

Mulibrey nanism is an extremely rare autosomal recessive genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and...

Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps). If left untreated, affected individuals inevitably develop cance...

Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps). If left untreated, affected individuals inevitably develop cance...

Mulvihill-Smith syndrome is an extremely rare disorder characterized by low birth weight; growth delays leading to short stature (dwarfism); and/or a prematurely aged facial appearance. Other findings may include additional abnormalities of the he...

Mumps is a contagious viral infection that primarily affects the salivary glands, causing swelling and pain in the cheeks and jaw. It is spread through respiratory droplets, such as coughing or sneezing, and can also be transmitted through close p...

Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three mon...

Listeriosis is a rare but serious infectious disease caused by the bacterium Listeria monocytogenes, which is predominantly transmitted to humans through the consumption of contaminated food. Clinical syndromes associated with listeriosis include ...

General DiscussionNeonatal lupus is a rare autoimmune disorder that is present at birth (congenital). Affected infants often develop a characteristic red rash or skin eruption. In addition, infants with neonatal lupus may develop liver di...

Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth reta...

Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth reta...

Renal cell carcinoma is a form of kidney cancer. Some patients with renal cell carcinoma do not have symptoms (asymptomatic). When symptoms are present, they may include blood in the urine; urine that is brown or rusty-colored; abdominal pain; wei...

Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder that may be inherited or acquired. NDI is not related to the more common diabetes mellitus (sugar diabetes), in which the body does not produce or properly use insulin. NDI is a distin...

Neuroblastoma is a disease in which malignant (cancer) cells form in nerve tissue of the adrenal gland, neck, chest, or spinal cord. Neuroblastoma often begins in the nerve tissue of the adrenal glands. There are two adrenal glands, one on...

Neuropathic pain is a pain condition that’s usually chronic. It’s usually caused by chronic, progressive nerve disease, and it can also occur as the result of injury or infection. If you have chronic neuropathic pain, it can fl...

Diabetic Retinopathy is a complication of diabetes and a disorder of the light sensitive tissue of the eye (the retina). This condition is characterized by destructive changes in the blood vessels of the retina, which, if left unchecked, may lead ...

General DiscussionPediatric cardiomyopathy is a rare heart condition that affects infants and children. Specifically, cardiomyopathy means disease of the heart muscle (myocardium). Several different types of cardiomyopathy exist and the s...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose is eliminated (excreted) in the urine despite normal or low blood glucose levels. With normal kidney (renal) function, glucose is excreted in t...

Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene. All males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some case...

Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by a reduced amount or complete lack of melanin pigment in the skin, hair, and eyes. These conditions are caused by mutations in specific genes that are necessary f...

Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic....

Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic....

Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic....

Papillitis, also known as optic neuritis, is characterized by inflammation and deterioration of the portion of the optic nerve known as the optic disk. Also referred to as the "blind spot," the optic disk (optic papilla) is that portion of the opt...

Osteoarthritis facts Osteoarthritis is a joint inflammation that results from cartilage degeneration. Osteoarthritis can be caused by aging, heredity, and injury from trauma or disease. The most common symptom of...

Osteoarthritis facts Osteoarthritis is a joint inflammation that results from cartilage degeneration. Osteoarthritis can be caused by aging, heredity, and injury from trauma or disease. The most common symptom of...

Ovarian cysts facts Ovarian cysts are closed, sac-like structures within the ovary that are filled with a liquid or semisolid substance. Ovarian cysts form for numerous reasons. Pain in the abdomen or pelvis is t...

What are palpitations? Palpations are sensations by a person that they are having hard, rapid, or irregular heartbeats or a combination of these sensations. The following is a brief description of the heart's function that should help read...

Gianotti-Crosti Syndrome is a rare skin disease affecting children between the ages of nine months and nine years. Major symptoms may include blisters on the skin of the legs, buttocks and arms. The disorder is usually preceded by a viral infectio...

Pelvic Inflammatory Disease (PID) is an infection of the female reproductive organs, including the uterus, fallopian tubes, and ovaries. It is usually caused by sexually transmitted infections such as chlamydia and gonorrhea, but can also be cause...

What is a peptic ulcer? A peptic ulcer is a break in the inner lining of the esophagus, stomach, or duodenum. A peptic ulcer of the stomach is called a gastric ulcer; of the duodenum, a duodenal ulcer; and of the esophagus, an esophageal u...

Familial hypophosphatemia is a rare inherited disorder characterized by impaired transport of phosphate and often altered vitamin-D metabolism in the kidneys. In addition, phosphate may not be well-absorbed in the intestines. The hypophosphatemia ...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Incontinentia Pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. Progressive skin changes occur in four stages, the first of which appear in early infancy or can be present at birth...

Bjornstad syndrome is an extremely rare inherited disorder characterized by the presence of abnormally flattened, twisted hair shafts (pili torti) and, in most cases, deafness (sensorineural hearing loss). Hearing loss typically affects both ears ...

Pineal cysts are benign (non-cancerous) fluid-filled sacs located in the region of the brain that contains the pineal gland. Small pineal cysts (.5 cm or smaller) are common occurrences, often found incidentally on routine neurological exams. Smal...

Pinguecula and Pterygium are two common eye conditions that affect the conjunctiva, the thin, transparent membrane that covers the white part of the eye and the inner surface of the eyelids. A Pinguecula is a yellowish, slightly raised bump on the...

Polycystic ovary syndrome  Polycystic ovary syndrome is a disorder involving infrequent, irregular or prolonged menstrual periods, and often excess male hormone (androgen) levels. The ovaries develop numerous small collections of flui...

Preeclampsia is a pregnancy complication characterized by high blood pressure and signs of damage to another organ system, most often the liver and kidneys. Preeclampsia usually begins after 20 weeks of pregnancy in women whose blood pressure had ...

General DiscussionWolff-Parkinson-White (WPW) syndrome is a rare congenital heart disorder involving irregularities in the electrical system of the heart. In individuals with WPW syndrome, an abnormal alternate electrical pathway (accesso...

Branchio-oculo-facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth (congenital). As of 2004, only about 50 cases of BOFS had been reported in the medical literature. The symptoms of most BOFS patients include the proli...

Premature ovarian failure — also known as primary ovarian insufficiency — is a loss of normal function of your ovaries before age 40. If your ovaries fail, they don't produce normal amounts of the hormone estrogen or release eggs regul...

Premenstrual dysphoric disorder (PMDD) can be considered to be a severe form of premenstrual syndrome (PMS), with symptoms that interfere with daily activities and functioning. PMDD occurs in 3% to 8% of menstruating women. ...

If you're a woman, you may be more familiar with the premenstrual syndrome than you'd like to be. But do you know when a problem period indicates that a visit to your doctor is in order? For most women, menstrual cycles last between 21 and...

Pernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, which is essential for the development of red blood cells. Most cases result from the lack of the gastric protein known as intri...

Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping...

Radiation sickness describes the harmful effects--acute, delayed, or chronic--produced by exposure to ionizing radiation. An observable effect due to radiation exposure becomes quite certain after a single dose of several hundred rads. As a rule, ...

Radiation sickness describes the harmful effects--acute, delayed, or chronic--produced by exposure to ionizing radiation. An observable effect due to radiation exposure becomes quite certain after a single dose of several hundred rads. As a rule, ...

Radiation sickness is damage to your body caused by a large dose of radiation often received over a short period of time (acute). The amount of radiation absorbed by the body — the absorbed dose — determines how sick you'll be. ...

Radiation sickness describes the harmful effects--acute, delayed, or chronic--produced by exposure to ionizing radiation. An observable effect due to radiation exposure becomes quite certain after a single dose of several hundred rads. As a rule, ...

Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth reta...

Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth reta...

Reactive attachment disorder is a rare but serious condition in which an infant or young child doesn't establish healthy attachments with parents or caregivers. Reactive attachment disorder may develop if the child's basic needs for comfort, affec...

Recurrent Respiratory Papillomatosis (RRP) is the respiratory condition characterised by the presence of recurrent wart-like growths called papillomas around the vocal cords in the respiratory tract. It is caused by the Human Papill...

Why does reflux laryngitis occur? Reflux is caused by weakness in the muscle at the junction of the esophagus with the stomach. Normally, this muscular valve, or sphincter, functions to keep food and stomach acid from moving upward from th...

Reye's syndrome is a rare and severe illness affecting children. Reye's syndrome is associated with viral infection and aspirin use. Patients with Reye's syndrome present with vomiting and mental-status changes. ...

Familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, ...

Ringworm, also known as tinea, is a common fungal infection of the skin that can affect different parts of the body, including the scalp, feet, groin, and nails. Despite its name, ringworm is not caused by a worm but by various types of fungi that...

Toxic epidermal necrolysis (TEN) is a rare, sometimes life-threatening unless properly treated, immunological disorder of the skin. It is characterized by blisters that meld into one another to cover a substantial portion of the body (30% and more...

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can affect many parts of the body. The disorder is characterized by distinctive abnormalities of the skin, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental a...

Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, particularly the skin....

Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate mental retardation and multiple birth defects including particular facial fea...

Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth retardation and postnatal growth deficiency along with a handful of common physical characteristics and a range of other symptoms. The wide spectrum of phenotype...

Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth retardation and postnatal growth deficiency along with a handful of common physical characteristics and a range of other symptoms. The wide spectrum of phenotype...

General DiscussionPhocomelia syndrome (PS) is a rare birth defect that causes severe birth defects, especially of the upper limbs. The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The ...

Toxic epidermal necrolysis (TEN) is a rare, sometimes life-threatening unless properly treated, immunological disorder of the skin. It is characterized by blisters that meld into one another to cover a substantial portion of the body (30% and more...

Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typicall...

Psoriasis is an inflammatory disease of the skin that is estimated to affect about 2.2% of the adult population. Some people may have a genetic predisposition to psoriasis. The genes affected seem to be involved with control of the immune system. ...

Sarcoidosis is a multisystem disorder that most often affects individuals between 20 and 40 years of age. Females appear to be affected more frequently than males. Sarcoidosis is characterized by the abnormal formation of inflammatory masses or no...

Squamous cell carcinoma (SCC) is the second most common skin cancer with between 200,000 and 250,000 cases reported each year. It is a malignant cancer that usually develops from the epidermis and/or the mucous lining of the body cavities (epithel...

Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate mental retardation and multiple birth defects including particular facial fea...

Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate mental retardation and multiple birth defects including particular facial fea...

Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes. The lysosomes are particles bound in membranes withi...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

Kugelberg Welander syndrome is a milder type of spinal muscular atrophy. It is a rare inherited neuromuscular disorder characterized by wasting and weakness in the muscles of the arms and legs, leading to walking difficulties in, and eventual loss...

Split hand/split foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers ...

Split hand/split foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers ...

Stretch mark facts The medical name for stretch marks is striae distensae. Stretch marks are very common. Stretch marks rarely are a sign of a significant medical problem. Stretch marks are generally pa...

Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three mon...

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to th...

Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected ind...

Subconjunctival hemorrhage is a condition in which small blood vessels in the white part of the eye (the sclera) break and leak blood. It is usually painless and causes the white of the eye to appear red or pink. It is a common condition that is u...

General DiscussionEndocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of suppor...

Adenylosuccinate lyase deficiency (ASLD) is a rare, inherited metabolic disorder due to a lack of the enzyme adenylosuccinate lyase (ASL). The defect is characterized by the appearance of two unusual chemicals, succinylaminoimidazole carboxamide r...

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac sympto...

General DiscussionJervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The...

Susac's syndrome is a rare disorder characterized by three main problems: impaired brain function (encephalopathy), partial or complete blockage (occlusion) of the arteries that supply blood to the retina (branch retinal artery occlusion, or BRAO)...

Congenital syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not become apparent until several weeks or months after birth and, in so...

Trichothiodystrophy is a hereditary disorder characterized by brittle hair, which may be accompanied by a variety of other manifestations. It is sometimes called PIBIDS, a term that refers to the association of Photosensitivity Ichthyosis, Brittle...

Tricho-dento-osseous (TDO) syndrome is an autosomal dominant genetic disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. TDO syndrome is character...

Three M syndrome is an extremely rare genetic disorder characterized by low birth weight, short stature (dwarfism), characteristic abnormalities of the head and facial (craniofacial) area, distinctive skeletal malformations, and/or other physical ...

Grover's disease is a rare, transient skin disorder that consists of small, firm, raised red lesions, most often on the skin of the chest and back. Diagnosis of this disorder becomes apparent under microscopic examination when the loss of the "cem...

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby stru...

General DiscussionCor triatriatum is an extremely rare congenital (present at birth) heart defect. Normally, the human heart has four chambers of which two are the atria. These two are separated from each other by a partition (septum) cal...

Trichiasis is a condition in which the eyelashes grow inwards, towards the eye, instead of outwards. This can cause irritation, pain, and even vision loss if left untreated. Treatment typically involves electrolysis or laser surgery to remove the ...

Tricho-dento-osseous (TDO) syndrome is an autosomal dominant genetic disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. TDO syndrome is character...

Trichorhinophalangeal syndrome type I (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of ...

Trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. TRPS2 is characterized by fine, thin hair; unusual facial features; progressive growth retardation resultin...

Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair; unusual facial features; abnormalities of the finger...

Trichotillomania (trik-o-til-o-MAY-nee-uh), also called hair-pulling disorder, is a mental disorder that involves recurrent, irresistible urges to pull out hair from your scalp, eyebrows or other areas of your body, despite trying to stop. ...

Type 1 diabetes, once known as juvenile diabetes or insulin-dependent diabetes, is a chronic condition in which the pancreas produces little or no insulin. Insulin is a hormone needed to allow sugar (glucose) to enter cells to produce energy. ...

Type 2 diabetes is an impairment in the way the body regulates and uses sugar (glucose) as a fuel. This long-term (chronic) condition results in too much sugar circulating in the bloodstream. Eventually, high blood sugar levels can lead to disorde...

Type 2 diabetes is an impairment in the way the body regulates and uses sugar (glucose) as a fuel. This long-term (chronic) condition results in too much sugar circulating in the bloodstream. Eventually, high blood sugar levels can lead to disorde...

Porphyria cutanea tarda (PCT) is a type of porphyria in which affected individuals are sensitive to sunlight. Exposed skin shows abnormalities that range from slight fragility of the skin to persistent scarring and disfiguration. Due to fragility ...

Porphyria cutanea tarda (PCT) is a type of porphyria in which affected individuals are sensitive to sunlight. Exposed skin shows abnormalities that range from slight fragility of the skin to persistent scarring and disfiguration. Due to fragility ...

Uterine fibroids facts Uterine fibroids are benign tumors that originate in the uterus (womb). It is not known exactly why women develop uterine fibroids. Most women with uterine fibroids have no symptoms. Howeve...

VACTERL with hydrocephalus is an extremely rare genetic disorder in which the multisystem features of VACTERL association occur in addition to hydrocephalus. The term VACTERL is an acronym with each letter representing the first letter of the more...

Vaginal atrophy is the medical term that refers to the thinning of the wall of the vagina that occurs during the menopause (the time when menstrual periods have ceased) in women. Vaginal atrophy occurs due to falling estrogen levels...

Congenital Varicella Syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth (congenital) due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up t...

Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder that may be inherited or acquired. NDI is not related to the more common diabetes mellitus (sugar diabetes), in which the body does not produce or properly use insulin. NDI is a distin...

VACTERL with hydrocephalus is an extremely rare genetic disorder in which the multisystem features of VACTERL association occur in addition to hydrocephalus. The term VACTERL is an acronym with each letter representing the first letter of the more...

General DiscussionVentricular septal defects are heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known ...

Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This condition is characterized by a specific finding on an MRI called a "molar tooth sign" in which the cerebel...

Primary visual agnosia is a rare neurological disorder characterized by the total or partial loss of the ability to recognize and identify familiar objects and/or people by sight. This occurs without loss of the ability to actually see the object ...

What is vitamin D? The "sunshine" vitamin is a hot topic. You may have recently found out that you are deficient or know someone who is. It's shocking for most people when they have never had a problem before and believe nothing has change...

Vitiligo is a disease in which the pigment cells of the skin, melanocytes, are destroyed in certain areas. Vitiligo results in depigmented, or white, patches of skin in any location on the body. Vitiligo can be focal and l...

Alopecia areata is a disorder characterized by loss of hair. Sometimes, this means simply a few bare patches on the scalp. In other cases, hair loss is more extensive. Although the exact cause is not known, this is thought to be an autoimmune diso...

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic disorder of fatty acid metabolism that is transmitted as an autosomal recessive trait. It occurs when an enzyme needed to break down certain very long-chain fatty acids is...

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage...

Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to ...

West syndrome is a type of epilepsy characterized by spasms, abnormal brain wave patterns called hypsarrhythmia and sometimes mental retardation. The spasms that occur may range from violent jackknife or "salaam" movements where the whole body ben...

Wieacker syndrome is a rare, slowly progressive, genetic disorder characterized by deformities of the joints of the feet (contracture), muscle degeneration (atrophy), mild mental retardation and an impaired ability to move certain muscles of the e...

Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case. However, in many individuals, associated features ...

Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); abnormalities of certain eye ...

Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital). The range and severity of associated symptoms and findings may vary greatly from case to case. However, primary features often include distinctive facial abnorma...

Werner Syndrome is a rare progressive disorder that is characterized by the appearance of unusually accelerated aging (progeria). Although the disorder is typically recognized by the third or fourth decades of life, certain characteristic findings...

MCT8-specific thyroid hormone cell transporter deficiency (THCT deficiency) is an inherited disorder that is characterized by severe mental retardation, an impaired ability to speak, diminished muscle tone (hypotonia), and/or movement abnormalitie...

L1 syndrome is an inherited, X-linked disorder occurring in males that primarily affects the nervous system. The disease is mainly characterized by hydrocephalus (increased fluid in the center of the brain), spasticity of the lower limbs (muscle s...