Von Willebrand disease is one of the most prevalent blood disorders in the world.Bowman M, Hopman WM, Rapson D, Lillicrap D, James P. The prevalence of symptomatic von Willebrand...
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 is a rare and catastrophic form of epilepsy that begins in infancy or early childhood. It is characterized by prolonged and recurrent...
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...
What is Pearson Syndrome?
Pearson Syndrome is a rare, fatal mitochondrial disorder characterized by multisystem involvement, commonly affecting the bone marrow and pancreas. With an...