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Aase-Smith syndrome II: A genetic disorder that may be detected during early infancy and is 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).
The exact cause of the syndrome is unknown. However, most evidence suggests that the disorder is inherited as an autosomal recessive trait.
The syndrome is named for the American dysmorphologists (birth-defect experts) Jon Aase and David W. Smith. Alternative names for the syndrome include:
Anemia and triphalangeal thumbs
Congenital anemia and triphalangeal thumbs
Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type.
Aase-Smith syndrome II: A genetic disorder that may be detected during early infancy and is characterized by the presence of three bones within the thumbs (triphalangeal ...
National Organization for Rare Disorders, Inc. Synonyms. Aase-Smith Syndrome II; Congenital Anemia and Triphalangeal Thumbs; Hypoplastic Anemia-Triphalangeal Thumbs, Aase-Smith ...
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Aase-Smith II syndrome symptoms, causes, diagnosis, and treatment information for Aase-Smith II syndrome (Diamond-Blackfan anemia) with alternative diagnoses, full-text ...
The anemia that is associated with Aase syndrome is a result of underdevelopment of the bone marrow, where blood cells are formed. It is also known as