{"orpha":2026,"name":"Gingival fibromatosis-hypertrichosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CGHT","Congenital generalized hypertrichosis terminalis","Hirsutism-congenital gingival hyperplasia syndrome","Hypertrichosis with or without gingival hyperplasia"],"definition":"A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2026/","orphanet_url":"https://www.orpha.net/en/disease/detail/2026","names":{"fr":{"name":"Syndrome de fibromatose gingivale-hypertrichose","synonyms":["Hypertrichose avec ou sans hyperplasie gingivale","Syndrome d'hirsutisme-hyperplasie gingivale","Syndrome de fibromatose gingivale héréditaire-hyperpilosité"],"definition":"Le syndrome de fibromatose gingivale-hypertrichose est une maladie rare autosomique dominante, caractérisée par un élargissement généralisé de la gencive (survenant à la naissance ou au cours de l'enfance) associé à une hypertrichose généralisée affectant surtout le visage, les membres supérieurs et la moitié du dos (se développant à la naissance, au cours des premières années de vie ou à la puberté)."},"de":{"name":"Gingiva-Fibromatose-Hypertrichose-Syndrom","synonyms":["CGHT","Hirsutismus-kongenitale gingivale Hyperplasie-Syndrom","Hypertrichose mit oder ohne gingivaler Hyperplasie","Kongenitale generalisierte Hypertrichosis terminalis"],"definition":"Das Gingiva-Fibromatose-Hypertrichose-Syndrom ist eine seltene, autosomal-dominant vererbte Erkrankung. Kennzeichnend sind (i) die in ihrem ganzen Bereich vergrößerte Gingiva (Manifestation bei Geburt oder im Kindesalter) und (ii) eine generalisierte Hypertrichose, die sich im ersten Lebensjahr oder während der Pubertät entwickelt und vor allem Gesicht, Arme und die mittlere Rückenregion betrifft."},"es":{"name":"Síndrome de fibromatosis gingival-hipertricosis","synonyms":["CGHT","Hipertricosis con o sin hiperplasia gingival","Hipertricosis congénita generalizada terminal","Síndrome de hirsutismo-hiperplasia gingival congénita"],"definition":"Es un trastorno poco frecuente autosómico dominante, caracterizado por un agrandamiento generalizado de la encía que se produce en el nacimiento o durante la infancia, que está asociado con una hipertricosis generalizada que se desarrolla a partir del nacimiento, durante los primeros años de vida, o en la pubertad y que afecta predominantemente a la cara, las extremidades superiores y la espalda media."},"it":{"name":"Sindrome fibromatosi gengivale-ipertricosi","synonyms":["CGHT","Ipertricosi con o senza iperplasia gengivale","Ipertricosi terminale generalizzata congenita","Sindrome irsutismo-iperplasia gengivale congenita"],"definition":"La sindrome fibromatosi gengivale-ipertricosi è una malattia rara, autosomica dominante, caratterizzata da iperaccrescimento generalizzato della gengiva, a esordio alla nascita o nel periodo infantile, associato a ipertricosi generalizzata alla nascita, nei primi anni di vita o durante la pubertà, che interessa prevalentemente la faccia, gli arti superiori e la regione centrale della schiena."},"nl":{"name":"Gingivale fibromatose - hypertrichose-syndroom","synonyms":["CGHT","Congenitale gegeneraliseerde hypertrichosis terminalis","Hirsutisme - congenitale gingivale hyperplasie-syndroom","Hypertrichose met of zonder gingivale hyperplasie"],"definition":"Een zeldzame, autosomaal dominante aandoening, gekarakteriseerd door een gegeneraliseerde vergroting van gingiva bij de geboorte of tijdens de kindertijd, geassocieerd met gegeneraliseerde hypertrichose die ontwikkelt bij de geboorte, tijdens de eerste levensjaren, of in de puberteit en die voornamelijk aangezicht, bovenste ledematen, en middenrug aantast."},"pt":{"name":"Síndrome de fibromatose gengival-hipertricose","synonyms":["Síndrome de hirsutismo-hiperplasia gengival congénita"]},"pl":{"name":"Zespół włókniakowatości dziąseł i hipertrichozy","synonyms":["CGHT","Hipertrichoza z lub bez hiperplazji dziąseł","Wrodzona uogólniona hipertrichoza graniczna","Zespół hirsutyzmu i wrodzonego przerostu dziąseł"]},"cs":{"name":"Syndrom zahrnující gingivální fibromatózu a hypertrichózu","synonyms":["CGHT","Vrozená generalizovaná hypertrichóza terminalis","Syndrom zahrnující hirsutismus a vrozenou gingivální hyperplázii","Hypertrichóza s nebo bez gingivální hyperplázie"]},"uk":{"name":"Поміняти порядок слів: Синдром фіброматозу ясен-гіпертрихозу","synonyms":["CGHT","Вроджений генералізований термінальний гіпертрихоз","Синдром гірсутизму - вродженої гіперплазії ясен","Гіпертрихоз з гіперплазією ясен або без неї"],"definition":"A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback."},"zh":{"name":"牙龈纤维瘤病-多毛综合征","synonyms":["多毛症伴或不伴牙龈增生"]},"tr":{"name":"Dişeti fibromatozu-hipertrikoz sendromu","synonyms":["CGHT","Doğumsal jeneralize hipertrikoz terminalis","Hirsutizm-doğumsal dişeti hiperplazisi sendromu","Dişeti hiperplazisi olan veya olmayan hipertrikoz"]}},"xrefs":[{"source":"OMIM","code":"135400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"135845109"},{"source":"MONDO","code":"0007610","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274889","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2324","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]}],"children":[],"genes":[{"symbol":"ABCA5","name":"ATP binding cassette subfamily A member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24831815[PMID]","hgnc":"35","ensembl":"ENSG00000154265","omim":"612503","loci":["17q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}