{"orpha":138,"name":"CHARGE syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CHARGE association","Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome","Hall-Hittner syndrome"],"definition":"A multiple congenital anomaly characterized by a broad phenotype with Coloboma, Choanal atresia/stenosis, Cranial nerve dysfunction, and Characteristic external and inner ears (known as the major 4 C's).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-138/","orphanet_url":"https://www.orpha.net/en/disease/detail/138","names":{"fr":{"name":"Syndrome CHARGE","synonyms":["Association CHARGE","Syndrome de Hall-Hittner"],"definition":"Anomalie congénitale multiple caractérisée par un phénotype large englobant un colobome, une atrésie/sténose choanale, des anomalies des nerfs crâniens et de l'oreille externe et interne (connues sous le nom de 4C pour quatre caractéristiques majeures)."},"de":{"name":"CHARGE-Syndrom","synonyms":["CHARGE-Assoziation","Hall-Hittner-Syndrom","Kolobom-Herzdefekte-Choanalatresie Wachstums- und Entwicklungsretardierung-Urogenitale Störungen-Ohranomalien-Syndrom"],"definition":"Eine multiple angeborene Anomalie, die durch ein breites Phänotypspektrum mit Kolobom, Choanalatresie/Stenose, Funktionsstörung der Hirnnerven und charakteristischen Fehlbildungen des Außen- und Innenohrs (bekannt als die ,,vier großen Cs'') gekennzeichnet ist."},"es":{"name":"Síndrome CHARGE","synonyms":["Asociación CHARGE","Síndrome de Hall-Hittner","Síndrome de coloboma-defectos cardíacos-atresia coanal-retraso del crecimiento y del desarrollo-problemas genitourinarios-anomalías del oído"],"definition":"Es un síndrome de anomalías congénitas múltiples caracterizado por un fenotipo amplio con coloboma, atresia/estenosis coanal, disfunción de los nervios craneales y anomalías del oído externo e interno (características conocidas como las ''4 C'' principales)."},"it":{"name":"Sindrome CHARGE","synonyms":["Associazione CHARGE","Sindrome coloboma-cardiopatia-atresia delle coane-ritardo della crescita e dello sviluppo-disturbi urogenitali-anomalie auricolari","Sindrome di Hall-Hittner"]},"nl":{"name":"CHARGE-syndroom","synonyms":["CHARGE-associatie","Coloboom - hartdefecten - choane atresie - groei- en ontwikkelingsachterstand - urogenitale problemen - oorafwijkingen-syndroom","Syndroom van Hall-Hittner"],"definition":"Een multipele congenitale anomalie, gekenmerkt door een breed fenotype met coloboom, choanale atresie/stenose, disfunctie van hersenzenuw, en kenmerkend buiten- en binnenoor (in het Engels gekend als de vier grote C's)."},"pt":{"name":"Síndrome CHARGE","synonyms":["Associação CHARGE","Síndrome Hall-Hittner","Síndrome coloboma-defeitos cardíacos-atrésia das coanas-atraso do crescimento e desenvolvimento-problemas genitourinários-anomalias do pavilhão auricular"],"definition":"Anomalia congénita múltipla caracterizada por um fenótipo amplo com Coloboma, atresia/estenose das Coanas, disfunção dos nervos Cranianos e Características particulares das orelhas externa e interna (conhecidas como os 4 Cs principais)."},"pl":{"name":"Zespół CHARGE","synonyms":["Asocjacja CHARGE","Coloboma - wady serca - zarośnięcie nozdzy tylnych - opóźnienie wzrostu i rozwoju - wady układu moczowo-płciowego - wady uszu","Zespół Hall i Hittnera"],"definition":"Zespół CHARGE to zespół wielu wad wrodzonych charakteryzujący się zmienną konstelacją wielu anomalii, w tym rozszczepem tęczówki, atrezją/zwężeniem nozdrzy tylnych, dysfunkcją nerwów czaszkowych, charakterystycznymi nieprawidłowościami uszu (typ główny 4C)."},"cs":{"name":"CHARGE syndrom","synonyms":["CHARGE asociace","Syndrom zahrnující kolobom, srdeční defekty, atrézii choan, růstovou retardaci, opoždění vývoje, anomálie močopohlavního ústrojí a abnormality ucha","Hallův-Hittnerův syndrom","Hall-Hittnerův syndrom"]},"uk":{"name":"Синдром CHARGE","synonyms":["Асоціація CHARGE","Синдром колобоми - вади серця - атрезії вушних раковин - затримки росту і розвитку - сечостатевх проблем - вушних аномалій","Синдром Холла-Хіттнера"],"definition":"CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)."},"zh":{"name":"CHARGE综合征","synonyms":["眼组成部分缺损-先天性心脏病-鼻后孔闭锁-生长发育迟缓-生殖器异常-耳部异常综合征"]},"tr":{"name":"CHARGE sendromu","synonyms":["CHARGE ilişkilendirmesi","Hall-Hittner sendromu","Kolobom-kalp defekti-koana atrezisi-büyüme ve gelişme geriliği-genitoüriner problemler-kulak anormallikleri sendromu"]}},"xrefs":[{"source":"OMIM","code":"214800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"52086532"},{"source":"MONDO","code":"0008965","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265354","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"29","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064063","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1474,"name":"Colobomatous-microphthalmia-heart disease-hearing loss syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":98655,"name":"Lens shape anomaly","classifications":[147,156,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":399846,"name":"Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism","classifications":[156,201]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":331220,"name":"Syndome with combined immunodeficiency due to thymic defect","classifications":[156,195]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"SEMA3E","name":"semaphorin 3E","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"15235037[PMID]","hgnc":"10727","ensembl":"ENSG00000170381","omim":"608166","loci":["7q21.11"]},{"symbol":"CHD7","name":"chromodomain helicase DNA binding protein 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301296[PMID]","hgnc":"20626","ensembl":"ENSG00000171316","omim":"608892","loci":["8q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Canada","status":"Validated","source":"15637722[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.5,"area":"Worldwide","status":"Not yet validated","source":"16959034[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2019[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-25","source":"21378379[PMID]_9545604[PMID]","terms":[{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000359","label":"Abnormality of the inner ear","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011382","label":"Hypoplasia of the semicircular canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100736","label":"Abnormality of the soft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005113","label":"Dilatation of the aortic arch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000066","label":"Labial hypoplasia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004348","label":"Abnormality of bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002410","label":"Aqueductal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010443","label":"Bifid femur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very rare (<4-1%)","criteria":null}]}}