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 July 2026
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Aase-Smith syndrome?
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Advocacy Organizations
Dandy Walker Institute
research genetic testing and finding cures to improve treatment outcomes
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.