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3C syndrome

Disease definition

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).

ORPHA:7

  • Synonym(s):
    • Craniocerebellocardiac dysplasia
    • Ritscher-Schinzel syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Neonatal, Antenatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 220210  300963
  • UMLS: C0796137
  • MeSH: C535313
  • GARD: 5666
  • MedDRA: -

Additional information

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