Aase-Smith Syndrome

Aase Smith Syndrome I

Overview

Type of disease: Rare conditions

Aase-Smith syndrome type I is a very rare autosomoal dominant genetic disorder. Babies with Aase-Smith Syndrome I are born with hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Their fingers are thin with absent knuckles and fewer creases over the joints. Additional findings may include deformed ears, drooping of eyelids (ptosis), an inability to open the mouth fully, heart defects, and clubfoot. Many of the symptoms overlap with Gordon Syndrome.

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