Tangier Disease: Causes, Symptoms and Risks
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: Causes, Symptoms & Care
Hypoplastic Left Heart Syndrome is a pathological condition in which the left heart chamber and its structures (mitral valve, aortic arch, ascending aorta, aortic...
Dravet Syndrome: Understanding This Severe Epilepsy
Dravet syndrome is a rare and catastrophic form of epilepsy that begins in infancy or early childhood. It is characterized by prolonged and recurrent...
Hurler Syndrome: Understanding Its Causes & Treatments
Hurler syndrome is a lysosomal storage condition that occurs due to mutations in the IDUA gene on chromosome 4, leading to a deficiency or...
Smith Lemli Opitz Syndrome: Understanding Its Impact & Care
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 Progressiva: A Rare Disorder
Fibrodysplasia ossificans progressive (FOP), previously known as myositis ossificans progressiva (MOP) and also referred to as Münchmeyer disease or Stoneman disease, is a rare...
