3C syndrome

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Synonyms: Craniocerebellocardiac dysplasia | Ritscher-Schinzel syndrome

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead hypertelorism ocular coloboma cleft palate) cerebellar (Dandy-Walker malformation cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot atrial and ventricular septal defects) anomalies (see these terms).

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 April 2026

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3C syndrome?

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Advocacy Organizations

PPP2CA Pathways

PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.

website Location: Global Global

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Clinical Trials

For a list of clinical trials in this disease area, please click here.