SYD: 61


Description: CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. In 2004 a Netherlands study (Vissers, LELM, found a gene (CHD7 on 8Q12) which was implicated in 2/3 of those tested. This gene is responsible for encoding a number of DNA protein which is esential when neural crest cells are being formed and migrating. A negative genetic test for changes in the CHD7 gene can still result in a diagnosis of CHARGE

There are no synonyms for this combination.

Category: Association

Developmental anomalies

Listed in the combination's profile :

There are no developmental anomalies for this combination.

Observed in MDB cases:

There are no developmental anomalies for this combination.
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Associated malformative diseases
Associated genes
Associated signaling pathways
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