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.
References in periodicals archive ?
CHARGE syndrome is a recognisable genetic pattern of birth defects which occurs in about one in every 9-10,000 births worldwide ?
Of note, this paper is designed for educators, and is intended to provide information on CHARGE syndrome that will allow them to better understand, and to provide educational programming for a student with this syndrome.
CHARGE syndrome is a rare genetic condition, generally estimated at 1:10,000 births, (15) involving a number of structural birth defects as well as multi-sensory impairments including deaf-blindness, language processing and communication difficulties, airway difficulties along with impaired ability to swallow food, and balance problems due to damaged or missing semi-circular canals in the inner ear.
Charge syndrome is a rare autosomal dominant disorder with multiple cardinal features, such as colobomas resulting in visual impairment, heart defects, vestibular malfunction, retarded growth, atresia choanae, and deafness (Pagon, Graham, Zonana, & Young, 1981), affecting approximately 1 in 10,000 babies (Sanlaville & Verloes, 2007).
Cork-born toddler Alicja Nowicki already suffers from one of the most severe forms of Charge Syndrome, a life-threatening illness which left her with 14 major birth defects.
The infant was born premature with a rare genetic disorder called Charge Syndrome.
The Cork-born toddler suffers from one of the most serious known cases of Charge Syndrome, a genetic disorder which affects just in one in every 10,000 babies.
The final article evaluates the effectiveness of physical education for children with CHARGE syndrome.
Her five-year-old daughter, Kaitlin, has CHARGE syndrome, a group of associated disorders which often includes heart defects.
Structured Abstract: Introduction: Children with CHARGE syndrome often experience significantly delayed motor development, which affects their performance in many motor skills and physical activities.