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Definition of Aase-Smith syndrome I
Aase-Smith syndrome I definition - medical term
A syndrome of congenital malformations (birth defects)
characterized by hydrocephalus, cleft palate, and severe arthrogryposis (joint contractures).
Other anomalies may include deformed ears, ptosis (drooping) of the eyelids, inability
to open the mouth fully, heart defects, and clubfoot. The fingers are thin with
absent knuckles, reduced creases over the joints and inability to make a full fist.
The syndrome is inherited as an autosomal dominant trait, transmitted from generation
to generation, affecting both males and females. It is named for the American dysmorphologists
(birth-defect experts) Jon Aase and David W. Smith.
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