1p36 deletion syndrome facts Introduction to the 1p36 deletion syndrome – how individuals get chromosomes with missing DNA 1p36 deletion syndrome stands for the following: 1 is the chromosome number that has deleted ...

Abdominal aortic aneurysm facts An aneurysm is an abnormal area of localized widening of a blood vessel. The aorta bulges at the site of an aneurysm like a weak spot on a worn tire. Aortic aneurysms are typically ...

Abdominal aortic aneurysm facts An aneurysm is an abnormal area of localized widening of a blood vessel. The aorta bulges at the site of an aneurysm like a weak spot on a worn tire. Aortic aneurysms are typically ...

Fetal retinoid syndrome is a characteristic pattern of mental and physical birth defects that results from maternal use of retinoids, the synthetic derivatives of vitamin A, during pregnancy. The most well known retinoid is isotretinoin (Accutane)...

Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it...

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...

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 (...

Ankylosing spondylitis facts Ankylosing spondylitis belongs to a group of arthritis conditions that tend to cause chronic inflammation of the spine (spondyloarthropathies). Ankylosing spondylitis affects males two to three...

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...

A heart arrhythmia (uh-RITH-me-uh) is an irregular heartbeat. Heart rhythm probl...

A heart arrhythmia (uh-RITH-me-uh) is an irregular heartbeat. Heart rhythm problems (heart arrhythmias) occur when the electrical signals that coordinate the heart's beats don't work properly. The faulty signalling causes the heart to beat too fas...

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...

Atrial fibrillation (A-fib) is an irregular and often very rapid heart rhythm (a...

Atrial fibrillation (A-fib) is an irregular and often very rapid heart rhythm (arrhythmia) that can lead to blood clots in the heart. A-fib increases the risk of stroke, heart failure and other he...

Romano-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 individuals may have no apparent...

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...

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 ...

Ivemark syndrome is a rare disorder that affects multiple organ systems of the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, malformations of the heart and the abnormal arrangement of the inter...

Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person t...

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...

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...

CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The term CHARGE comes from the first letter of some of the more common features seen in these children: (C) = coloboma (u...

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...

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...

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable pres...

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...

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...

Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor developme...

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) ...

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...

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...

Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder may be characterized by episodes of uncontrolled electrical activity in the brain (seizures); mental retardation; distinctive sk...

Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by enlargement of the esophagus, impaired ability to push food down toward the stomach (peristalsis), and failure of the ...

What is the esophagus? The esophagus is a muscular tube in the chest. It's about 10 inches (25 centimeters) long. This organ is part of the digestive tract. Food moves from the mouth through the esophagus to the stomach. Th...

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...

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...

Megaloblastic anemia is a condition in which the bone marrow produces unusually large, structurally abnormal, immature red blood cells (megaloblasts). Bone marrow, the soft spongy material found inside certain bones, produces the main blood cells ...

Pseudo-Hurler polydystrophy (mucolipidosis type III) is a rare genetic metabolic disorder characterized by a defective enzyme known as UPD-N-acetylglucosamine-1-phosphotransferase. This defective enzyme ultimately results in the accumulation of ce...

Obesity is a growing concern. By medical standards, obesity is defined as having a body mass index (BMI) of over 30 kg/m2. While lifestyle modification remains the cornerstone for treatment, surgical options are becoming more popular. One of the s...

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...

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...

Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. It is an inborn error of metabolism, and one of the lysosomal ...

Group B strep facts Group B strep are bacteria found normally in the intestine, vagina, and rectal area in about 25% of all healthy women. Group B strep infections can affect neonates and adults. Most pregnant wo...

Histidinemia is a rare hereditary metabolic disorder characterized by a deficiency of the enzyme histidase, which is necessary for the metabolism of the amino acid histidine. The concentration of histidine is elevated in the blood. Excessive amoun...

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...

Cardiac catheterization (also called cardiac cath or coronary angiogram) is an invasive imaging procedure that tests for heart disease by allowing your doctor to see how well your heart is functioning. During the test, a long, narrow tube, called ...

Cardiac catheterization (also called cardiac cath or coronary angiogram) is an invasive imaging procedure that tests for heart disease by allowing your doctor to see how well your heart is functioning. During the test, a long, narrow tube, called ...

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...

Hereditary spherocytic hemolytic anemia is a rare blood disorder characterized by defects within red blood cells (intracorpuscular) that result in a shortened survival time for these cells. Red blood cells (erythrocytes) normally circulate for a f...

The esophagus connects the mouth and throat to the stomach. It passes through the chest cavity and enters the abdominal cavity through a hole in the diaphragm called the esophageal hiatus. The term hiatal hernia describes a condition where a part ...

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...

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 ...

General DiscussionHypoplastic left heart syndrome is a term used to describe a group of closely related rare heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria,...

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...

General DiscussionGiant cell myocarditis is a rare cardiovascular disorder that occurs for unknown reasons (idiopathic). It is characterized by inflammation of the heart muscle (myocardium), a condition referred to as myocarditis. Inflamm...

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 ...

Fetal retinoid syndrome is a characteristic pattern of mental and physical birth defects that results from maternal use of retinoids, the synthetic derivatives of vitamin A, during pregnancy. The most well known retinoid is isotretinoin (Accutane)...

Fetal retinoid syndrome is a characteristic pattern of mental and physical birth defects that results from maternal use of retinoids, the synthetic derivatives of vitamin A, during pregnancy. The most well-known retinoid is isotretinoin (Accutane)...

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...

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...

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...

Malignant carcinoid syndrome is characterized by a variety of signs and symptoms. Carcinoid tumors are neuroendocrine tumors that develop from primitive stem cells that can give rise to a variety of cell types. When a rare malignant...

Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include mental retardation; distinctive malformations of the skull and ...

Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person t...

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-gal...

Maroteaux-Lamy syndrome is a rare genetic metabolic disorder that belongs to a group of disorders known the mucopolysaccharidoses. The disorder is also known as mucopolysaccharidosis (MPS) type VI. Maroteaux-Lamy syndrome occurs in three types: a ...

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 ...

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...

Neonatal 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 disease, a heart condition kn...

Red cell pyruvate kinase deficiency is a hereditary blood disorder characterized by a deficiency of the enzyme pyruvate kinase. Physical findings associated with the disorder may include reduced levels of oxygen-carrying hemoglobulin in the blood ...

Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes...

Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person 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...

Tachycardia is when your heart beats faster than normal, even when you’re not doing anything. Paroxysmal supraventricular tachycardia (PSVT) is when your fast heartbeat starts in the upper, or supraventricular, chambers of the heart. It&rsqu...

Pheochromocytomas are a type of tumor of the adrenal glands that can release high levels of epinephrine and norepinephrine. As the name implies, the adrenalglands are located near the "renal" (kidney) area.  One adrenal gland sits on top of e...

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a se...

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...

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...

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...

Pulmonary hypertension is a life-threatening illness if not taken care of properly. If diagnosed, treatments can alleviate the symptoms and help you live with the disease more comfortably. High blood pressure in the arteries that run from your hea...

General DiscussionSecondary pulmonary hypertension is a disorder of the blood vessels in the lungs. It usually is the result of other lung diseases or related diseases in other organs. Affected individuals have high blood pressure (hypert...

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. ...

Pump lung, (also known as Shock Lung), is inflammatory lung damage.  Pump lung is caused by fluid buildup in the lungs' small air sacs (called alveoli), which makes breathing very difficult. It also results in severely low bloo...

Acquired Pure Red Cell Aplasia is a rare bone marrow disorder characterized by an isolated decline of red blood cells (erythrocytes) produced by the bone marrow. Affected individuals may experience fatigue, lethargy, and/or abnormal paleness of th...

Thrombotic thrombocytopenia purpura (TTP) is a rare, serious blood disease. Major symptoms may include a severe decrease in the number of blood platelets (thrombocytopenia), abnormal destruction of red blood cells (hemolytic anemia), and disturban...

5-Oxoprolinuria is a biochemical finding that can arise from two underlying metabolic disorders. It is characterized by excretion of massive amounts of the chemical 5-oxoproline....

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (r...

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...

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...

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...

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...

Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person t...

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...

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...

Stomach cancer is an abnormal growth of cells that begins in the stomach. The st...

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...

Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal thickening of the skin. Connective tissue is composed of collagen, which supports and binds other body tissues. There are several types of scleroderma. Some type...

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (r...

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...

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...

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (r...

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (r...

General DiscussionTownes-Brocks syndrome (TBS) is an autosomal dominant genetic disorder characterized by absence of the anal opening (imperforate anus), abnormal ears associated with hearing impairment and thumb malformations. Abnormalit...

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...

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 ...

What is a ventricular septal defect (VSD)? A ventricular septal defect (VSD) is a heart malformation present at birth. Any condition that is present at birth can also be termed a "congenital" condition. A VSD, therefore, is a type of conge...

What is a ventricular septal defect (VSD)? A ventricular septal defect (VSD) is a heart malformation present at birth. Any condition that is present at birth can also be termed a "congenital" condition. A VSD, therefore, is a type of conge...

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 ...

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...

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...

Wolf-Hirschhorn syndrome is an extremely rare chromosomal disorder caused by a partial deletion (monosomy) of the short arm ("p") of chromosome 4. Major symptoms may include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nos...

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...