Aase Syndrome

Date: 18 Mar 2016 | Leave a comment


Important It is possible that the main title of the report Aase Syndromeis not the name you expected. Synonyms Aase-Smith Syndrome II Congenital Anemia and Triphalangeal Thumbs Hypoplastic Anemia-Triphalangeal Thumbs, Aase-Smith Type Disorder Subdivisions None General Discussion Aase syndrome is a rare genetic disorder that may be detected during early infancy. The disorder is primarily characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells (hypoplastic anemia). In some instances, additional abnormalities may be present. The exact cause of Aase syndrome is unknown. However, most evidence suggests that the disorder is inherited as an autosomal recessive trait.

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