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Definition of Aase-Smith syndrome II
Aase-Smith syndrome II definition - medical term
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).
T he 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.
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