Aase-Smith syndrome

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Aase-Smith syndrome

Synonyms: Aase-Smith I syndrome | Hydrocephalus-cleft palate-joint contractures syndrome

A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly) cleft palate and severe joint contractures.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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Aase-Smith syndrome?

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