Ritscher-Schinzel syndrome

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Disease Overview

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.

Synonyms

3C syndrome
CCC dysplasia
Craniocerebellocardiac dysplasia
Dandy-Walker like malformation with atrioventricular septal defect
Dandy-Walker-like malformation with ASD
Dandy-Walker-like malformation with atrioventricular septal defect
Ritscher Schinzel syndrome
Ritscher-Schinzel cranio-cerebello-cardiac syndrome
Ritscher-Schinzel syndrome
cranio-cerebello-cardiac dysplasia
craniocerebellocardiac dysplasia

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report

Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.