[MIM 220 210]

(cranio-cerebello-cardiac dysplasia, Ritscher-Schinzel syndrome) 

Extremely rare. Autosomal recessive transmission of a mutation of the KiAA0196 gene (8q24.13). 

Association of: 

-         craniofacial dysplasia: relative macrocephaly, prominent forehead, hypertelorism with depressed nasal bridge, cleft palate (or bifid uvula), down-slanting palpebral fissures, prominent occiput, low set ears, sometimes micrognathia 

-         cerebellar hypoplasia: Dandy-Walker malformation (see this term), cyst of the posterior fossa, agenesis of the corpus callosum

-         cardiac malformations: mainly atrioventricular canal

Anesthetic implications: 

cardiac echography, risk of intracranial hypertension, risk of difficult mask ventilation and intubation

References:

•        El Kishawi A, Thrikovil SV, Soni AL. 
  3C syndrome (cranio-cerebello-cardiac dysplasia) or Ritscher-Schinzel syndrome: a rare case report with review of literature. 
  Kuweit Med J 2006; 38: 138-40.

Updated: December 2019