Aase-Smith syndrome
Aase-Smith syndrome
Definition
Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
Also known as Aase-Smith I syndrome, Aase-Smith syndrome, Aase-Smith syndrome type 1, hydrocephalus-cleft palate-joint contractures syndrome — per MONDO