Azorean Disease Azorean disease causes progressive degeneration of the central nervous system. Affected individuals experience deterioration in muscle coordination and other physical Read More
Giant Axonal Neuropathy Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural Read More
ACD (Alveolar capillary dysplasia) Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs Read More
General Discussion Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial (craniofacial) Read More
Acanthocytosis Acanthocytes (from the Greek word acantha, which means thorn), or spur cells, are spiculated red cells with a few projections of Read More
What is Medium Chain Acyl-CoA Dehydrogenase Deficiency? Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a treatable inherited disease in which the body Read More
What is Aase Syndrome? Aase Syndrome (or Aase-Smith Syndrome II) is a highly infrequent disorder. Individuals with this disorder show a variety Read More
