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
Congenital Afibrinogenemia Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood does not clot normally due to Read More
Acquired Lipodystrophy Lipodystrophy refers to the loss of adipose tissue. It is classified as either diffuse (generalized) or local (partial) and results 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 Aase Syndrome? Aase Syndrome (or Aase-Smith Syndrome II) is a highly infrequent disorder. Individuals with this disorder show a variety Read More
