Ritscher-Schinzel syndrome

Ritscher-Schinzel syndrome (RTSC), also known as 3C (cranio-cerebello-cardiac) syndrome, is a rare entity with a variable spectrum of CNS (primarily cerebellar), craniofacial, and congenital heart defects.

Clinical presentation


Ritscher-Schinzel syndrome is divided into two types, RTSC1 and RTSC2, according to which genes are involved:

  • RTSC1 is caused by a mutation in the KIAA0196 gene on chromosome 8q24 3, it is transmitted in an autosomal recessive pattern of inheritance
  • RTSC2 is caused by a mutation in the CCDC22 gene on chromosome Xp11 4, it is transmitted in an X-linked recessive pattern of inheritance
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Article information

rID: 55114
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • 3C (cranio-cerebello-cardiac) syndrome
  • craniocerebellocardiac syndrome
  • 3C syndrome
  • cranio-cerebello-cardiac syndrome
  • craniocerebellocardiac dysplasia
  • Dandy-Walker-like malformation with atrioventricular septal defect

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