Ablepharon-Macrostomia Syndrome (AMS) is a rare genetic disorder characterized by the absence of eyelids (ablepharon) and a large mouth (macrostomia). Other features of the disorder may include a wide nasal bridge, low-set ears, and a cleft lip or...

Abnormal number of coronary ostia is a condition in which there are more or fewer than the normal two coronary ostia (the openings of the coronary arteries) present in the heart. This condition can be caused by a congenital defect or by a disease ...

Abnormal origin of right or left pulmonary artery from the aorta is a congenital heart defect in which the pulmonary artery arises from the aorta instead of the pulmonary trunk. This defect can cause a variety of symptoms, including shortness of b...

Medical abortion is a procedure that uses medication to end a pregnancy. A medical abortion doesn't require surgery or anesthesia and can be started either in a medical office or at home with follow-up visits to your doctor. It's safer and most ef...

ABri amyloidosis is a rare, progressive, and fatal neurodegenerative disorder caused by the accumulation of amyloid-beta (Aβ) peptides in the brain. It is characterized by the formation of amyloid plaques in the brain, which can lead to cognitive...

Abruzzo-Erickson syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the ARX gene, which is responsible for the development of the brain and other organs. ...

Adams-Oliver syndrome (AOS) is an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. The physical abnormalities associated with this disorder vary greatly among affect...

Absence deformity of leg-cataract syndrome is a rare genetic disorder characterized by the absence of the lower leg bones, cataracts, and other eye abnormalities. It is caused by a mutation in the gene that codes for the protein filamin A. This di...

Absence of fingerprints-congenital milia syndrome is a rare genetic disorder characterized by the absence of fingerprints and the presence of milia, which are small white cysts on the skin. People with this disorder may also have other skin abnorm...

Absence of the innominate vein is a rare congenital anomaly in which the right brachiocephalic vein (innominate vein) is absent. This anomaly is usually asymptomatic and is usually discovered incidentally during imaging studies. Treatment is usual...

Absence of the pulmonary artery is a rare congenital heart defect in which the pulmonary artery, which carries deoxygenated blood from the right ventricle to the lungs, is missing or underdeveloped. This condition can lead to a variety of complica...

Absence of uterine body is a rare congenital malformation in which the uterus is completely absent. This condition is also known as uterine agenesis or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. It is usually diagnosed during adolescence whe...

Absent radius-anogenital anomalies syndrome is a rare genetic disorder characterized by the absence of the radius bone in the forearm, as well as malformations of the genitals and urinary tract. Other features of the disorder may include short sta...

Absent thumb-short stature-immunodeficiency syndrome (ATSIS) is a rare genetic disorder characterized by the absence of the thumb, short stature, and immunodeficiency. It is caused by a mutation in the gene encoding the transcription factor FOXP2....

Absent tibia-polydactyly-arachnoid cyst syndrome is a rare genetic disorder characterized by the absence of the tibia bone in the lower leg, extra fingers or toes (polydactyly), and the presence of an arachnoid cyst in the brain. It is caused by a...

Acanthocheilonemiasis is a rare parasitic infection caused by the nematode Acanthocheilonema perstans. It is spread by the bite of certain species of mosquitoes and is most commonly found in tropical and subtropical regions. Symptoms of the infect...