CHARGE syndrome

Definition:

CHARGE syndrome is a rare, usually sporadic disorder with multiple congenital anomalies. CHARGE is an acronym for the six prevalent clinical features of the disease, namely, coloboma, heart defect, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies/deafness. Abnormal semicircular canals, arhinencephaly, and rhombencephalic dysfunctions are also considered as important features. Nearly 2/3 of cases harbor mutations within the CHD7 gene.

References:

[1]. Arzu Pampal, et al. CHARGE: an association or a syndrome?. Int J Pediatr Otorhinolaryngol. 2010 Jul;74(7):719-22. [Content Brief]

[2]. Damien Sanlaville, et al. CHARGE syndrome: an update. Eur J Hum Genet. 2007 Apr;15(4):389-99. [Content Brief]

[3]. S R Lalani, et al. SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet. 2004 Jul;41(7):e94. [Content Brief]

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