3C syndrome

3C syndrome
Other namesCCC dysplasia, Craniocerebellocardiac dysplasia or Ritscher–Schinzel syndrome,
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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.