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3C syndrome

What is 3C 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).

Other condition names

  • Craniocerebellocardiac dysplasia
  • Ritscher-Schinzel syndrome

Inheritance type

Autosomal recessive, X-linked recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Antenatal
  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.