RTSC1 is characterized by the association of cranial dysmorphism, cerebellar hypoplasia and cardiac malformation. Additional anomalies include colobomas, hand abnormalities, and mental retardation.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
8q24.13
RTSC1 is characterized by the association of cranial dysmorphism, cerebellar hypoplasia and cardiac malformation. Additional anomalies include colobomas, hand abnormalities, and mental retardation.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 220210.1.1 | Saudi Arabia | Female | No | Yes | Craniosynostosis; Abnormal facial shape;... Craniosynostosis; Abnormal facial shape; Malar flattening; Micrognathia; Turricephaly; Broad hallux  | NM_014846.4:c.2849A>G | Homozygous | Autosomal, Recessive | Maddirevula et al. 2020 |
Megarbane and Haddad (1999) reported two Lebanese siblings with cranio-cerebello-cardiac syndrome (3C syndrome) born to non-consanguineous parents. These two patients from Lebanon were the first to have duodenal stenosis associated with the 3C syndrome which might extend the wide range of phenotypic variability of this syndrome.
El-Kishawi et al. (2006) reported a Saudi infant girl suffering from 3C (cranio-cerebello-cardiac dysplasia) syndrome at Farwaniya Hospital in Kuwait. The girl was born to consanguineous parents. )El-Kishawi A, Thrikovil S, Soni A. 3C syndrome (cranio-cerebello-cardiac dysplasis) or ritcher-schinzel syndrome: a rare case report with review of literature. Kuwait Medical Journal 2006, 38(2): 138-140.)
Seidahmed et al. (2011) reported four cases of 3C syndrome in two consanguineous Saudi families which were related to each other. All four patients fit the diagnostic criteria for 3C syndrome. Seidahmed et al. (2011) reported a genitourinary involvement seen in these patients, which had not been reported in association with this syndrome. The authors suggested expanding the phenotypic spectrum of this syndrome to include severe renal involvement, partial alopecia, camptodactyly and impaired immunity.