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3C syndrome

Orpha number ORPHA7
Synonym(s) Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS
  • C0796137
MeSH
  • C535313
MedDRA -
SNOMED CT -

Summary

3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome.

3C syndrome is of autosomal recessive inheritance.

Management includes shunting for hydrocephaly in 1/3 of the patients. Special help for hypotonia, retarded psychomotor and speech development should be offered.

Prognosis of 3C syndrome is mainly a function of cardiac defects.

Expert reviewer(s)

  • Pr Valérie CORMIER-DAIRE
  • Pr Laurence FAIVRE-OLIVIER

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