Disease or Syndrome
CHARGE syndrome
[ chahrj sin-drohm, -druhm ]
Subclass of:
Congenital ocular coloboma (disorder);
Multiple congenital anomalies;
Genetic Diseases, Inborn
Definitions related to charge syndrome:
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A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.NCI ThesaurusU.S. National Cancer Institute, 2021
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An autosomal dominant syndrome caused by mutation(s) in the CHD7 gene, encoding chromodomain-helicase-DNA-binding protein 7, and characterized by coloboma, cardiac anomalies, choanal atresia, growth and developmental delay, hypogonadotropic hypogonadism, and ear anomalies.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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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 hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.GeneReviewsUniversity of Washington, 2021
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Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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(charge association) A genetic syndrome characterized by autosomal dominant mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental delay, genital, and ear abnormalities.ACC/AHA Clinical Data TerminologyAmerican College of Cardiology and American Heart Association , 2020
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CHARGE syndrome is an autosomal dominant genetic disorder typically caused by mutations in the chromodomain helicase DNA-binding protein-7 (CHD7) gene. The acronymWebMD, 2019
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CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for c oloboma, h eart defect, a tresia c hoanae (also known as choanal atresia), r estricted growth and development, g enital abnormality, and e ar abnormality. Signs and symptoms vary among people with this condition;...National Center for Advancing Translational Sciences
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