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 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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