CHARGE syndrome

Also known as: Hall–Hittner syndrome

Multiple congenital anomalies including coloboma, heart defects, choanal atresia, growth delay, genital and ear anomalies.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, congenital
Gene(s) involved: CHD7, SEMA3E

Etiology & mechanism

CHD7 haploinsufficiency alters chromatin remodeling in neural crest development.

Gene(s) involved (2)

CHD7SEMA3E

Symptoms & signs (9)

choanal atresiacolobomacranial nerve palsiesear anomaliesgenital hypoplasiagrowth retardationhearing lossheart defectsswallowing difficulty

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.