Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management. Cleft Palate Craniofac J. 2018 Mar. 55 (3):342-7. . Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K. Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am J Med Genet A. 2007 Nov 15. 143A (22):2712-5.

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Charge syndrome symptoms

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CHARGE syndrome is a pattern of differences seen at birth. CHARGE stands for Coloboma, Heart defects, choanal Atresia, Retarded growth and development,

“CHARGE syndrome, also known as CHARGE Association, is a specific set of birth features. The major diagnostic criteria were based on the letters in CHARGE. Not all individuals with CHARGE syndrome will have all the symptoms, and each of the symptoms can vary in their degree of severity.” (Sandra L.H. Davenport, M.D.) How Do Doctors Treat CHARGE Syndrome?

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CHARGE Syndrome. CHARGE syndrome is characterized by the association of coloboma, heart anomalies, choanal atresia, retardation of growth and development, genital and ear anomalies. Patients with CHARGE syndrome are usually identified in infancy or early childhood when multiple congenital anomalies are found.

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Clinical characteristics: CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital Over the years, it has become clear that CHARGE is indeed a syndrome and at least one gene causing CHARGE syndrome has been discovered. The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and … Signs and Symptoms of CHARGE syndrome . As we pointed out in the initial description, CHARGE syndrome is associated with a well-defined pattern of medical conditions. The most common ones include (Genetics Home Reference, 2016, Hefner, 1999, National Organization for Rare Disorders, 2016): Coloboma Ocular So if a couple has a child with CHARGE syndrome, it is very unlikely that any of their future children will have CHARGE syndrome.

The cause of CHARGE syndrome in the one-third of children who do not have a CHD7 mutation is not yet known. What is CHARGE syndrome?