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

• craniofacial
  • cleft palate
  • ocular coloboma
  • prominent occiput
  • low-set ears
  • hypertelorism
  • down-slanting palpebral fissures
  • depressed nasal bridge
  • micrognathia
• cardiac
  • ventricular and atrial septal defects
  • tetralogy of Fallot
  • double outlet right ventricle
  • hypoplastic left heart
  • aortic stenosis and other valvular defects
• cerebellar
  • Dandy-Walker malformation
  • cerebellar vermis hypoplasia
  • mega cisterna magna

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

Siehe auch:

• Dandy-Walker-Syndrom

und weiter:

• Foramina parietalia permagna
• Foramen parietale