Giant Axonal Neuropathy Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural Read More
ACC (Aplasia Cutis Congenita) Aplasia cutis congenita (ACC) is a heterogenous group of disorders characterized by the absence of a portion of Read More
Froelich’s Syndrome? It is possible that the main title of the report Froelich’s Syndrome is not the name you expected. Please check the synonyms listing to 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
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
