Multiple congenital anomalies including coloboma, heart defects, choanal atresia, growth delay, genital and ear anomalies.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, congenital
- Gene(s) involved
- CHD7, SEMA3E
- Alternative names & eponyms
- Hall–Hittner syndrome
Etiology & mechanism
CHD7 haploinsufficiency alters chromatin remodeling in neural crest development.
Gene(s) involved (2)
Symptoms & signs (9)
In plain terms, someone with CHARGE syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Cornelia de Lange syndrome
hearing loss, heart defects
2 shared
Goldenhar syndrome
ear anomalies, hearing loss
2 shared
Smith–Magenis syndrome
hearing loss, heart defects
2 shared
Trisomy 9 mosaic syndrome
growth retardation, heart defects
2 shared
Warfarin embryopathy syndrome
growth retardation, hearing loss
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Alström syndrome
hearing loss
1 shared
Bamforth–Lazarus syndrome
choanal atresia
1 shared
Branchio-oto-renal syndrome
hearing loss
1 shared
Cat eye syndrome
heart defects
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