CHARGE association
MIM.214800 8q12.1
CHARGE association is a non-random occurrence of congenital malformations including coloboma, heart disease, choanal atresia, retarded growth and/or retarded development, genital hypoplasia, ear anomalies and/or deafness.
Synopsis
coloboma
heart malformations
choanal atresia
intra-uterine growth retardation (IUGR)
genital hypoplasia
ear malformations and/or deafness
limb anomalies (30%)
- monodactyly
- tibial aplasia
- bifid femora
Etiology
germline mutations in the gene CHD7 coding for the chromodomain helicase DNA-binding protein-7 at 8q12.1(MIM.608892) (15300250)
Cytogenetics
der(9)t(9;13) (11940088)
der(6)t(4;6) (11940088)
See also
malformative associations
CHDs
References
Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K. Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype. Am J Med Genet A. 2007 Oct 15; PMID: 17937444
Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Berges M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attie-Bitach T, Verloes A, Sanlaville D. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. Clin Genet. 2007 Aug;72(2):112-21. PMID: 17661815