A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm ...

Acne is a skin condition that occurs when your hair follicles become plugged with oil and dead skin cells. It often causes whiteheads, blackheads or pimples, and usually appears on the face, forehead, chest, upper back and shoulders. Acne is most ...

Acne (acne vulgaris, common acne) is a disease of the hair follicles of the face, chest, and back that affects almost all teenagers during puberty -- the only exception being members of a few primitive Neolithic tribes living in isolatio...

Malignant large bowel cystadenocarcinoma is quite treatable and frequently cured when it only affects the digestive system. 1. One-stage resection anastomosis, which can be subtotal colectomy or segmental colectomy, w...

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...

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...

Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the auto...

Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the auto...

Allergic granulomatosis also known as Eosinophilic granulomatosis with polyangiitis (EGPA, formerly Churg-Strauss Syndro...

Allergic granulomatosis and angiitis or Eosinophilic granulomatosis with polyangiitis is a condition that affects the sm...

Arachnoiditis is a pain disorder caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord. It is characterized by severe stinging, "burning pain", and neurological problems....

Arginase deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase. Arginase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea ...

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...

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...

Polymyalgia rheumatica is a rare inflammatory disease characterized by muscle pain (myalgia), stiffness, and additional generalized systemic symptoms such as fatigue, low-grade fever, and/or a general feeling of ill health (malaise). Polymyalgia r...

Arthritis is the swelling and tenderness of one or more joints. The main symptoms of arthritis are joint pain and stiffness, which typically worsen with age. The most common types of arthritis are osteoarthritis and rheumatoid arthritis. O...

What is the definition of asbestos? Asbestos is a family of naturally occurring silica compounds (similar to, but not the same as, the silica of window glass and computer chips). These substances form fibers with varying shapes and sizes a...

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...

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 ...

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...

Black Eye is a mobile photography app that allows users to take and edit photos with a variety of filters, effects, and tools. It also includes features such as face recognition, portrait mode, and a variety of other editing tools....

What is the bladder? The urinary bladder, or the bladder, is a hollow organ in the pelvis. Most of it lies behind the pubic bone of the pelvis, but when full of urine, it can extend up into the lower part of the abdomen. Its primary functi...

What is the bladder? The urinary bladder, or the bladder, is a hollow organ in the pelvis. Most of it lies behind the pubic bone of the pelvis, but when full of urine, it can extend up into the lower part of the abdomen. Its primary functi...

Female urinary system Your urinary system — which includes the kidneys, ureters, bladder and urethra — is responsible for removing waste from your body through urine. Your kidneys, located toward the back in your upper abdomen,...

Female urinary system Your urinary system — which includes the kidneys, ureters, bladder and urethra — is responsible for removing waste from your body through urine. Your kidneys, located toward the back in your upper abdomen,...

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...

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune de...

Medullary Sponge Kidney is a rare disorder characterized by the formation of cystic malformations in the collecting ducts and the tubular structures within the kidneys (tubules) that collect urine. One or both kidneys may be affected. The initial ...

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...

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...

Endometrial cancer Open pop-up dialog box Close Endometrial cancer Endometrial cancer Endometrial cancer begins in the lining (endometrium) of the uterus. Endometrial cancer is a type of cancer that begins in the uterus. The uterus...

Endometrial cancer begins in the lining (endometrium) of the uterus. Endometrial cancer is a type of cancer that begins in the uterus. The uterus is the hollow, pear-shaped pelvic organ where fetal development occurs. Endometrial c...

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...

Carcinoid syndrome is a disease consisting of a combination of symptoms, physical manifestations, and abnormal laboratory findings. Carcinoid syndrome is seen in individuals who have an underlying carcinoid tumour with spread to the liver. Carcino...

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 ...

Chilblains (CHILL-blayns) are the painful inflammation of small blood vessels in your skin that occur in response to repeated exposure to cold but not freezing air. Also known as pernio, chilblains can cause itching, red patches, swelling and blis...

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...

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 ...

Colitis means inflammation of the colon. The colon, also known as the large intestine or large bowel, constitutes the last part of the digestive tract. The colon is a long, muscular tube that receives digested food from the small intestine. It rem...

Collagenous colitis is a rare digestive disorder that primarily affects females and typically becomes apparent during middle age. The disorder is characterized by inflammatory changes of the mucous membranes (mucosa) of the colon (colitis) and abn...

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. ...

Colon cancer Open pop-up dialog box Close Colon cancer Colon cancer Colon cancer can occur in any part of the colon. An examination of your entire colon using a long, flexible tube equipped with a camera (colonoscopy) is one way to detect ...

Colon cancer can occur in any part of the colon. An examination of your entire colon using a long, flexible tube equipped with a camera (colonoscopy) is one way to detect colon cancer and polyps. Colon cancer is a type of cancer that begin...

Mixed connective tissue disease facts Connective tissues are the framework of the cells of the body. Mixed connective tissue disease is an "overlap" combination of connective tissue diseases. Diagnosis of mixed c...

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...

Corneal laceration is a tear or cut in the cornea, the clear, dome-shaped surface that covers the front of the eye. It is usually caused by a sharp object, such as a fingernail, a piece of metal, or a tree branch. Corneal lacerations can cause pai...

A corneal ulcer is an open sore on the cornea, the clear dome-shaped surface that covers the front of the eye. It is usually caused by an infection, such as bacterial, viral, or fungal, or by an injury to the eye. Symptoms of a corneal ulcer inclu...

Carnitine palmitoyltransferase 1A deficiency (CPT1A) is characterized by a sudden onset of liver failure and damage to the nervous system resulting from liver failure (hepatic encephalopathy), usually associated with fasting or illness. CPT1A defi...

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...

Adenoid cystic carcinoma (ACC) is a relatively rare form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. In some cases, ACC may arise in other primary sites, such as the skin; the breast; the nec...

Mixed cryoglobulinemia is a rare disorder characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that thicken and clump together at cold temperatures, usually below 98.6 degrees Fahrenheit (the average hum...

Fraser syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmo...

Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, ...

Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, ...

Cystinuria facts Cystinuria is a relatively common inherited disorder. The disorder is due to a defect in the transport of amino acids including one called cystine. Cystinuria features too much cystine in the uri...

A cystocele occurs when the wall between a woman's bladder and her vagina weakens and allows the bladder to droop into the vagina. Symptoms of a cystocele include urine leakage and incomplete emptying of the bladder. Cause...

Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, ...

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...

Degenerative disc disease and sciatica facts The discs of the spine serve as "cushions" between each vertebral segment. The discs are designed somewhat like a jelly donut. Degeneration (deterioration) of the disc...

Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last f...

Dehydration facts The body needs water to function. Dehydration occurs when water intake is less than water loss. Symptoms range from mild to life-threatening. The young and the elderly are especially s...

Diabetes and foot problems facts Two main conditions, peripheral artery disease (PAD) and peripheral neuropathy, are responsible for the increased risk of foot problems in people with diabetes. People with diabetes have an...

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...

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

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

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in th...

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...

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...

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, ...

Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocat...

General DiscussionEisenmenger syndrome is a rare progressive heart condition that develops in some individuals with structural malformations of the heart that are present from birth (congenital heart defects). The disorder is characterize...

Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) ...

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...

Endometriosis is the abnormal growth of cells (endometrial cells) similar to those that form the inside of the uterus, but in a location outside of the uterus. Endometriosis is most commonly found on other organs of the pelvis. The ...

Enterovirulent E. coli (EEC) facts Enterovirulent E. coli (EEC) are bacteria that comprise several groups of E. coli serovars, all of which may cause diarrhea and other problems in the intestines. EEC bacteria can cause a ...

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...

Erythema multiforme (EM) is the name applied to a group of hypersensitivity disorders, affecting mostly children and young adults, and characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM fre...

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone m...

Extrinsic Allergic Pneumonia, also known as Allergic Interstitial Pneumonitis and Hypersensitivity Pneumonitis, is an inflammatory syndrome that affects the lungs. Extrinsic: the origin is an external matter - an antigen. Allergic: The cau...

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...

Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins (sometimes called "good cholesterol"). Large amounts of these compounds may accumulate in certain orga...

Congenital fiber type disproportion (CFTD) is a rare genetic muscle disease that is usually apparent at birth (congenital myopathy). It belongs to a group of muscle conditions called the congenital myopathies that tend to affect people in a simila...

Factor XIII deficiency is a rare, genetic bleeding disorder characterized by a deficiency of clotting factor XIII. Clotting factors are specialized proteins that are essential for the blood to clot properly. Specifically, individuals with factor X...

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...

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...

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...

Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar). Galactose is converted t...

Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). The enzyme defect leads to the abnormal accumulation of...

Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar). Galactose is converted t...

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 ...

Though ulcers often heal on their own, you shouldn't ignore their warning signs. If not properly treated, ulcers can lead to serious health problems, including: Bleeding Perforation (a hole through the wall of the stomach)...

Definition of gastroenteritis Gastroenteritis (often referred to as the "stomach flu," however, it is not related to the influenza virus. Gastroenteritis is a nonspecific term for various inflammatory problems in the gastrointestinal tract...

Gastroparesis facts Gastroparesis is a disease of the muscles of the stomach or the nerves controlling the muscles that causes the muscles to stop working. Gastroparesis results in inadequate grinding of food by the stomac...

Gaucher disease is an inherited disorder of metabolism that interferes with many body functions. There are different forms of Gaucher disease. The perinatal lethal form is the most severe type of Gaucher disease. ...

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximatel...

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...

Glaucoma is a group of eye diseases that damage the optic nerve, which carries information from the eye to the brain. It is usually caused by an abnormally high pressure in the eye, which can damage the optic nerve and lead to vision loss. Glaucom...

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...

General DiscussionGlutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents them from breaking down certain chenicals in the body, resu...

Glutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents them from breaking down certain chenicals in the body, resulting the accumulation of s...

Glutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents them from breaking down certain chenicals in the body, resulting the accumulation of s...

Glutaricaciduria I (GA-I) is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a group of disorders known as "organic acidemias," it is characterized by an enlarged head (macrocephaly), d...

Forbes disease (GSD-III) is one of several glycogen storage disorders (GSD) that are inherited as autosomal recessive traits. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes exce...

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...

Lichen sclerosus is a chronic skin disorder that most commonly affects post-menopausal women. However, it is sometimes identified among pre-menopausal women, and, even more rarely, among males. When found in males, the disease is known as balaniti...

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...

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...

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...

Heat rash facts Heat rash occurs when the skin's sweat glands are blocked and the sweat produced cannot get to the surface of the skin to evaporate. This causes inflammation that results in a rash. Common symptoms of heat ...

Helicobacter pylori (H. pylori) facts Helicobacter pylori (H. pylori) is a bacterium that causes chronic inflammation in the stomach and is a common cause of ulcers worldwide H. pylori causes chronic inflammation (gastriti...

What is hemolytic uremic syndrome (HUS)? Hemolytic uremic syndrome (HUS) is a disease of two body systems, the blood stream and the kidney. Hemolysis describes the destruction of red blood cells. In hemolytic uremic syndrome, blood within ...

Hemolytic uremic syndrome (HUS) is a condition caused by the abnormal destruction of red blood cells. The damaged red blood cells clog the filtering system in the kidneys, which can lead to life-threatening kidney failure. HUS usually deve...

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 ...

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, ...

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...

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign gro...

Langerhans cell histiocytosis (LCH) is a spectrum of rare disorders characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the various tissues and organs of the body (lesions). The l...

Histoplasmosis is an infection caused by the fungus Histoplasma. The fungus can be found in the environment, particularly in soil with a high concentration of bird or bat droppings. Histoplasma is mostly found in the central and eastern United Sta...

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...

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...

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

Hyphema is a condition in which there is bleeding in the front chamber of the eye, between the cornea and the iris. It is usually caused by trauma to the eye, such as a blunt force or a sharp object. Symptoms of hyphema include blurred vision, red...

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...

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...

Idiopathic thrombocytopenic purpura (ITP) facts Treatment for idiopathic thrombocytopenic purpura (ITP) is based on how much and how often you're bleeding and your platelet count. In some cases, treatment may not be needed. ...

IgA nephropathy (nuh-FROP-uh-thee), also known as Berger's disease, is a kidney disease that occurs when an antibody called immunoglobulin A (IgA) lodges in your kidneys. This results in local inflammation that, over time, may hamper your kidneys'...

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...

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 ...

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...

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...

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...

Jock itch facts Jock itch is a very common groin rash. Roughly half of jock itch is due to fungus. The remainder is caused by moisture, irritation, and bacterial overgrowth. Symptoms and signs of jock itch includ...

Until recently the relationship of Stevens-Johnson syndrome to other severe blistering disorders was a matter of some debate. Now a consensus seems to be evolving that describes SJS as a rare disorder involving lesions of the mucous membranes alon...

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...

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 ...

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. ...

Bilateral Renal Agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid (Oligohydramnios) in a pregna...

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...

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...

Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last f...

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...

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...

Drug-induced liver diseases are diseases of the liver that are caused by physician-prescribed medications, over-the-counter medications, vitamins, hormones, herbs, illicit ("recreational") drugs, and environmental toxins. What is the liver...

Urticaria pigmentosa is a rare skin disorder that is a localized (cutaneous) form of mastocytosis. Some clinicians suggest that urticaria pigmentosa is the childhood form of mastocytosis. Mast cells are specialized cells of connective tissue that ...

Low back pain facts Functions of the low back, or lumbar area, include structural support, movement, and protection of certain body tissues. Pain in the low back can be a result of conditions affecting the bony lumbar spin...

Lumbar spinal stenosis facts Lumbar spinal stenosis is a condition whereby either the spinal canal (central stenosis) or one or more of the vertebral foramina (foraminal stenosis) becomes narrowed. Lumbar spinal stenosis i...

Macular degeneration facts The macula is in the center of the retina, the light-sensitive layer of tissue at the back of the eye. The macula is responsible for central vision (straight-ahead vision). Degeneration of the macula occur...

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...

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...

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...

Marcus Gunn phenomenon is a rare genetic disorder that is usually present at birth. It is characterized by the movement of one upper eyelid in a rapid rising motion each time the jaw moves. Other eye abnormalities and vision difficulties may also ...

Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength. Connective tissue is found all over the body and multiple organ systems may be affected...

The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body...

Microcephaly is a condition where the head (circumference) is smaller than normal. Microcephaly may be caused by genetic abnormalities or by drugs, alcohol, certain viruses, and toxins that are exposed to the fetus during pregnancy ...

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...

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) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates...

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, ...

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...

Necrotizing Sarcoid Granulomatosis (NSG) is a rare granulomatous illness that primarily affects the lungs and manifests as nodular masses of confluent sarcoid-like granulomas with severe necrosis and vasculitis. It was first described in 1973, as ...

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...

Nocardiosis is an infectious pulmonary disease characterized by abscesses in the lungs. These abscesses may extend through the chest wall. The infection is spread through the body via the bloodstream by a microorganism called Nocardia asteroids....

Nonketotic hyperglycinemia is an inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in blood, urine and, particularly, the cerebrospinal fluid (CSF). The metabolic block occurs in the conversion...

Henoch-Schonlein purpura is a rare inflammatory disease of the small blood vessels (capillaries) and is usually a self-limited disease. It is the most common form of childhood vascular inflammation (vasculitis) and results in inflammatory changes ...

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...

Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformiti...

Neuromyelitis optica, also known as Devic disease (DD), is a chronic disorder of nerve tissue characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). There appear to be two forms of this di...

An orbital fracture is a break in the bones that form the eye socket. It is usually caused by blunt force trauma to the face, such as a punch or a fall. Symptoms of an orbital fracture include double vision, swelling and bruising around the eye, a...

General DiscussionRetroperitoneal fibrosis is a rare inflammatory disorder in which abnormal formation of fiber-like tissue (fibrosis) occurs behind the membrane that lines the cavity of the abdomen (peritoneum). This abnormal tissue grow...

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...

Hyperoxaluria occurs when you have too much oxalate in your urine. Oxalate is a natural chemical in your body, and it's also found in certain types of food. But too much oxalate in your urine can cause serious problems. Hyperoxaluria can b...

Paget disease of the breast is a form of breast cancer that affects the skin of the nipple. The cause of Paget disease of the breast is poorly understood, but it may be related to tumor cells from other sites in the breast traveling...

What is the pancreas, and what is the function of the pancreas? The pancreas is an organ in the abdomen that sits in front of the spine above the level of the belly button. It performs two main functions. First, it makes insulin, a hormone...

What is the pancreas, and what is the function of the pancreas? The pancreas is an organ in the abdomen that sits in front of the spine above the level of the belly button. It performs two main functions. First, it makes insulin, a hormone...

Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. The penis is a rod-shaped male reproductive organ that passes sperm and urine from the body. It contains two types of erectile tissue (spongy ti...

Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. The penis is a rod-shaped male reproductive organ that passes sperm and urine from the body. It contains two types of erectile tissue (spongy ti...

The liver serves many purposes within the body from making carbohydrates, proteins and fats to synthesizing bile to help digest found. Because of this, the liver requires a significant blood supply. As opposed to other organs in the body, the majo...

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 ...

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...

Primary central hypoventilation syndrome is a disorder affecting normal breathing.  It causes people to take shallow breaths resulting in a lack of oxygen and accumulation of carbon dioxide in the blood.  The com...

Propionic acidemia is a rare metabolic disorder affecting from 1/20,000 to 1/250,000 individuals in various regions of the world. It is characterized by deficiency of propionyl-CoA carboxylase, an enzyme involved in the breakdown (catabolism) of t...

Propionic acidemia is a rare metabolic disorder affecting from 1/20,000 to 1/250,000 individuals in various regions of the world. It is characterized by deficiency of propionyl-CoA carboxylase, an enzyme involved in the breakdown (catabolism) of t...

Prostate cancer is cancer that occurs in the prostate. The prostate is a small w...

Prostate cancer is cancer that occurs in the prostate. The prostate is a small w...

screening for prostate cancer Testing healthy men with no symptoms for p...

screening for prostate cancer Testing healthy men with no symptoms for p...

Pulmonary Infiltrates with Eosinophilia (PIE) is inflammation due to increased eosinophils, a type of white blood cell.  Pulmonary infiltrates with eosinophilia can be categorized into primary or idiopathic and secondary. ...

Lymphomatoid granulomatosis is a rare disorder characterized by overproduction (proliferation) of white blood cells called lymphocytes (lymphoproliferative disorder). The abnormal cells infiltrate and accumulate (form lesions or nodules) within ti...

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, ...

X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfat...

X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfat...

Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the auto...

Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the auto...

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, ...

General DiscussionRomano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some indiv...

Rosacea (roe-ZAY-she-uh) is a common skin condition that causes redness and visible blood vessels in your face. It may also produce small, red, pus-filled bumps. These signs and symptoms may flare up for a period of weeks to months and then dimini...

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...

Sakati syndrome is an extremely rare disorder that belongs to a group of rare genetic disorders known as "Acrocephalopolysyndactyly" (ACPS). All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between c...

Short chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare autosomal recessive genetic disorder of fatty acid catabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD). It occurs because of a deficiency of the s...

Adrenoleukodystrophy is an X-linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome. This condition affects the white matter of the nervous system and the adrenal cortex. Some affected individuals have adr...

Shigellosis is an infectious disease caused by a group of bacteria called Shigella. It is typically spread through contaminated food or water, or through close contact with an infected person. Symptoms of shigellosis can include diarrhea, fever, s...

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune de...

Weismann-Netter-Stuhl syndrome is an extremely rare genetic skeletal disorder characterized by the abnormal development of bone (osseousbo dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and th...

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...

General DiscussionSneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood ...

Sneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood flow to the brain (cerebral...

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 ...

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...

Pseudoxanthoma elasticum, PXE, is an inherited disorder caused y mutations in the ABCC6 transporter gene that affects connective tissue in some parts of the body. Elastic tissue in the body becomes mineralized; that is, calcium and other minerals ...

Large arteries Open pop-up dialog box Close Large arteries Large arteries Takayasu's arteritis is a form of vasculitis — inflammation of the blood vessels — that damages the large arteries, especially the aorta. Chamber...

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...

Esophageal atresia (EA) is a rare birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally. In infants with EA, the esophagus is usually separated into two parts, an upper and lower segment...

Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones...

Tuberculosis (TB) is a potentially serious infectious disease that mainly affect...

Peptic ulcers are open sores that develop on the inside lining of your stomach a...

Urethral cancer is a disease in which malignant (cancer) cells form in the tissues of the urethra. The urethra is the tube that carries urine from the bladder to outside the body. In women, the urethra is about 1½ inches long and is...

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...

Normal vaginal bleeding is the periodic blood flow from the uterus. Normal vaginal bleeding is also called menorrhea. The process by which menorrhea occurs is called menstruation. In order to determine whether bleeding is ...

Gorham's disease (GD) is an extremely rare bone disorder; fewer than 200 cases are reported in the medical literature. It is characterized by bone loss (osteolysis) often associated with swelling or abnormal blood vessel growth (angiomatous prolif...

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...

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign gro...

Lichen sclerosus is a chronic skin disorder that most commonly affects post-menopausal women. However, it is sometimes identified among pre-menopausal women, and, even more rarely, among males. When found in males, the disease is known as balaniti...

In ichthyosis vulgaris, the skin cells are produced at a normal rate, but they do not shed normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. The result is a build-up of scale. F...

Congenital wandering spleen is a very rare, randomly distributed birth defect characterized by the absence or weakness of one or more of the ligaments that hold the spleen in its normal position in the upper left abdomen. The disorder is not genet...

General DiscussionRomano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some indiv...

Warts are small, self-limited tumors caused by human papillomavirus (HPV) infection. Types of warts include common warts, flat warts, plantar warts, periungual warts, and filiform warts. Warts typically disappear on their ...

Weismann-Netter-Stuhl syndrome is an extremely rare inherited skeletal disorder characterized by the abnormal development of bone (osseous dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and th...

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. ...

General DiscussionWilliams 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 ...