Hypotrichosis is a condition characterized by an abnormal deficiency of hair on the scalp or body. It may affect various areas, including the scalp, eyebrows, and eyelashes, and can...
Tangier Disease is a rare genetic disorder characterized by extremely low levels of high-density lipoprotein (HDL) cholesterol, also known as "good cholesterol." It is...
Hypoplastic Left Heart Syndrome is a pathological condition in which the left heart chamber and its structures (mitral valve, aortic arch, ascending aorta, aortic...
Smith Lemli Opitz Syndrome is an autosomal recessive disorder that causes multiple congenital anomalies due to defective cholesterol metabolism. This syndrome restricts the growth...
Fibrodysplasia ossificans progressive (FOP), previously known as myositis ossificans progressiva (MOP) and also referred to as Münchmeyer disease or Stoneman disease, is a rare...
Omphalocele is an inborn disorder in which a defect in your child's central abdominal wall causes protrusion of the abdominal contents or organs outside...