3C syndrome

3C syndrome
Other namesCCC dysplasia, Craniocerebellocardiac dysplasia[1] or Ritscher–Schinzel syndrome,[2]
Gene expression pattern of the KIAA0196 gene.
SpecialtyMedical genetics 

3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named.

  1. ^ Disease ID 5666 at NIH's Office of Rare Diseases
  2. ^ "3C syndrome". Orphanet. Retrieved 11 April 2014.
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