Citation, DOI, disclosures and article data
Citation:
Bell D, Sharma R, Glick Y, et al. Ritscher-Schinzel syndrome. Reference article, Radiopaedia.org (Accessed on 25 Apr 2024) https://doi.org/10.53347/rID-55114
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
- cardiac
- cerebellar
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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