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

Pathology

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 , it is transmitted in an autosomal recessive pattern of inheritance
  • RTSC2 is caused by a mutation in the CCDC22 gene on chromosome Xp11 , it is transmitted in an X-linked recessive pattern of inheritance