Hittner HM, Hirsch NJ, Kreh GM et al (1979) Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation–a syndrome. Hartshorne N, Hudson A, MacCuspie J et al (2016) Quality of life in adolescents and adults with CHARGE syndrome. Hall BD (1979) Choanal atresia and associated multiple anomalies. Hale CL, Niederriter AN, Green GE, Martin DM (2016) Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Clin Pediatr (Phila) 37:159–173Įdwards JH, Finlay HVL, Young RB (1961) Coloboma with multiple congenital anomalies.
CHARGE SYNDROME MEANING UPDATE
Arch Dis Child 65:217–223īlake KD, Davenport SL, Hall BD et al (1998) CHARGE association: an update and review for the primary pediatrician. J Med Genet 48:334–342īlake KD, Russell-Eggitt IM, Morgan DW et al (1990) Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Clin Genet 77:232–240īergman JE, Janssen N, Hoefsloot LH et al (2011) CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. Br Med J 1:1212–1214īergman JEH, Blake KD, Bakker MK (2010) Death in CHARGE syndrome after the neonatal period. Studies have found that in most cases the mutation in the child was new, meaning that the syndrome is genetic and caused by a new mutation in a dominant gene.Angelman H (1961) Syndrome of coloboma with multiple congenital abnormalities in infancy. This is a regulatory gene which has a role in turning other genes off and on. Research indicates that it is caused by a mutation in a single gene, and occurring most frequently the gene CHD7. What causes CHARGE syndrome?ĬHARGE syndrome is a genetic condition. In addition, children suffering from CHARGE syndrome usually require medical and educational help for many years. The majority of sufferers also experience vision loss, hearing loss and problems with balance which can affect their development and communication skills. Even when returning home breathing and swallowing can still make like difficult for sufferers. Urinary tract problems including reflux and abnormal kidney shapeīabies born with CHARGE syndrome often have life-threatening birth defects and as such spend many months in hospital to undergo surgery and other treatments.There’s also several other difficulties which are associated with CHARGE syndrome including Kidney or urinary problems can also develop.Įar abnormalities or deafness – Ear infections can be frequent and many children with CHARGE syndrome suffer from a deformed outer ear.Īlthough these features aren’t currently used to make a diagnosis of the syndrome the name remains. Genital and urinary abnormalities – Under-developed reproductive organs can occur in both sexes. It can also be a developmental delay occurring due to problems with hearing and vision. Retardation of growth and/or development – This can be a physical delay caused by health problems such as nutrition or hormone deficiency. Heart DefectsĪtresia – A condition in which a passage in the body (orifice) is unusually closed or altogether absent. The term “CHARGE” was used as an acronym for the unusual congenital features which occur in those who have the syndrome Ĭoloboma of the eye – A hole in one of the structures in the eye including the lens, retina, eyelid or optic disc. And in the majority of cases there’s no history of the syndrome or other similar conditions in the sufferers family. CHARGE syndrome involves extensive physical and medical problems which differ from child to child. It occurs in around one in 10,000 births worldwide and is an extremely complicated condition. CHARGE syndrome describes a pattern of birth defects and is one of the major causes of Deafblindness.
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