CHARGE syndrome

(charj )

[Acronym for c(oloboma), h(eart defects), a(tresia), r(etardation), g(enital), e(ar) ]
A rare X-linked congenital syndrome characterized by the presence of coloboma, structural heart defects, choanal atresia, growth retardation, genital hypoplasia, and abnormal ear development with deafness.

© 2000–2026 Unbound Medicine, Inc. All rights reserved
All content is protected by copyright and may not be used for AI model training or other unauthorized purposes.