3C syndrome

3C syndrome
Classification and external resources
ICD-10	Q87.0
OMIM	220210

3C syndrome, also known as CCC dysplasia, Craniocerebellocardiac dysplasia^[1] or Ritscher Schinzel syndrome^[2], is a rare condition, characterized by cardiac malformation (heart defects), cerebellar hypoplasia and cranial dysmorphism (symptoms involving the brain). 3C syndrome is believed to follow an autosomal recessive pattern of inheritance, though the molecular basis is unknown of.^[2] Since it was first reported in 1987 by Ritscher and Schinzel^[2] there have been at least 20 individuals with this condition.^[3]

References

1. ^ Disease ID 5666 at NIH's Office of Rare Diseases
2. ^ ^{a b c} ORPHANET - About rare diseases - About orphan drugs
3. ^ Wheeler PG, Sadeghi-Nejad A, Elias ER (1999). "The 3C syndrome: evolution of the phenotype and growth hormone deficiency". Am. J. Med. Genet. 87 (1): 61–4. doi:10.1002/(SICI)1096-8628(19991105)87:1<61::AID-AJMG12>3.0.CO;2-K. PMID 10528249.