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Aase-Smith syndrome I
Aase-Smith syndrome I: 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.
Last updated on 05/15/2008
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