{"doi":"10.1002/9781119432692.ch11","title":"CHARGE SYNDROME","abstract":"CHARGE syndrome is a multiple congenital anomaly syndrome. The acronym CHARGE is based on the cardinal features identified when the syndrome was first delineated – coloboma, congenital heart defects, choanal atresia, retardation of growth, developmental delay, genital abnormalities, ear abnormalities and deafness. A consistent feature in CHARGE syndrome is semicircular canal hypoplasia, resulting in vestibular dysfunction. Newborn children with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity, particularly in infancy. CHARGE syndrome is an autosomal dominant disorder with an estimated prevalence at birth as high as 1 in 8500. The CHD7 gene is the only gene currently known to be associated with CHARGE syndrome; however, clinical features of CHARGE have significant overlap with other developmental disorders including 22q11 deletion syndrome and Kabuki syndrome. Most individuals with CHARGE syndrome are sporadic, but transmission from a mildly affected parent has been reported. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions for their problems with airway, feeding, heart defects, hearing, vision, and hypogonadotropic hypogonadism.","journal":"University of Groningen research database (University of Groningen / Centre for Information Technology)","year":2020,"id":134765,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9472,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":590733,"name":"Christine A. Oley","orcid":null,"position":1,"is_corresponding":false},{"id":590375,"name":"Conny M.A. van Ravenswaaij‐Arts","orcid":"0000-0002-8744-1305","position":2,"is_corresponding":false},{"id":472725,"name":"Donna M. Martin","orcid":"0000-0002-8070-2007","position":0,"is_corresponding":true}],"reference_count":87,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-18T23:16:27.963294Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}