It is possible that the main title of the report Aase Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Aase-Smith Syndrome II
- Congenital Anemia and Triphalangeal Thumbs
- Hypoplastic Anemia-Triphalangeal Thumbs, Aase-Smith Type
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.
March of Dimes Birth Defects Foundation
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Genetic and Rare Diseases (GARD) Information Center
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