CHARGE syndrome


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Related to CHARGE syndrome: VATER syndrome

CHARGE association

acronym denoting a particular grouping of congenital anomalies found together more frequently than otherwise expected. Affected patients have coloboma of the eye, heart defects (typically tetralogy of Fallot, patent ductus arteriosus, or ventricular or atrial septal defect), atresia of the choanae, renal anomalies and retardation of growth and/or development, genital anomalies in males such as small penis or cryptorchidism, and ear abnormalities or deafness.
Synonym(s): CHARGE syndrome

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.
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References in periodicals archive ?
Most cases of CHARGE syndrome are caused by sporadic de novo pathogenic variants in the CHD7 gene on chromosome 8q12, although cases of autosomal dominant familial transmission have also been reported (Burns Wechsler & McDonald, 2018; Chen, 2017; Hartshorne, Stratton, & van Ravenswaaij-Arts, 2011; Online Mendelian Inheritance in Man [OMIM], n.d.).
KEYWORDS: Neonate, CHARGE Syndrome, Choanal Atresia, Heart defects.
Charge syndrome is a genetic and complex condition which leads to extensive medical and physical difficulties in children.
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004;36:955-957.
Previous studies on CHD7 suggested that the analysis of this gene should be performed in KS patients having at least two CHARGE syndrome features.
The Halloween Charity Ball is being held on October 26 at St John's Hotel in Solihull in aid of Charge Syndrome UK and The Solihull Down Syndrome Support Group.
used whole-genome sequencing to demonstrate a prenatal diagnosis of CHARGE syndrome (5).
They gave me a scan for Down's syndrome, but that wasn't connected to CHARGE syndrome. I had a natural birth, that was quite quick.
HEIDELBERG, Germany, July 5, 2013 -- CHARGE syndrome * is a severe developmental disorder affecting multiple organs.
In addition, risk alterations were found in genes associated with fragile X or related syndromes (CAPRIN1 and AFF2), social-cognitive deficits (VIP), epilepsy (SCN2A and KCNQ2) as well as NRXN1 and CHD7, which causes ASD-associated CHARGE syndrome.
Prader Willi Syndrome, CHARGE syndrome, Bardet-Biedl syndrome, congenital adrenal hyperplasia, DAXI and leptin deficiency, etc.
This paper introduces educators to CHARGE syndrome (CS), a multiple anomaly developmental syndrome that is usually accompanied by some degree of hearing and visual impairment.