{"orpha":85164,"name":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CATSHL syndrome","Camptodactyly-tall stature-scoliosis-deafness syndrome"],"definition":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85164/","orphanet_url":"https://www.orpha.net/en/disease/detail/85164","names":{"fr":{"name":"Syndrome de camptodactylie-grande taille-scoliose-déficience auditive","synonyms":["Syndrome CATSHL"],"definition":"Le syndrome CATSHL associe une camptodactylie, une grande taille, une scoliose, et une déficience auditive. Ce syndrome a été décrit chez une trentaine de sujets issue de sept générations d'une même famille. Il est causé par une mutation faux-sens hétérozygote du gène <i>FGFR3</i>, responsable d'une perte de fonction partielle de la protéine correspondante, un régulateur négatif de la croissance osseuse."},"de":{"name":"Kamptodaktylie-Hochwuchs-Skoliose-Hörverlust-Syndrom","synonyms":["CATSHL-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch Kamptodaktylie, Hochwuchs, Skoliose und Hörverlust (CATSHL)."},"es":{"name":"Síndrome de camptodactilia-talla alta-escoliosis-hipoacusia","synonyms":["Síndrome CATSHL","Síndrome de camptodactilia-talla alta-escoliosis-sordera"],"definition":"Es un síndrome caracterizado por camptodactilia, talla alta, escoliosis e hipoacusia (CATSHL). Se ha descrito en alrededor de 30 pacientes de siete generaciones de una misma familia. El síndrome está causado por una mutación de cambio de sentido en el gen <i>FGFR3</i>, que conduce a una pérdida parcial de función de la proteína codificada, un regulador negativo del crecimiento óseo."},"it":{"name":"Camptodattilia - bassa statura - scoliosi - perdita dell'udito","synonyms":["Sindrome CATSHL"]},"nl":{"name":"Camptodactylie - grote gestalte - scoliose - gehoorverlies-syndroom","synonyms":["CATSHL-syndroom","Camptodactylie - grote gestalte - scoliose - doofheid-syndroom"],"definition":"Camptodactylie - grote gestalte - scoliose - gehoorverlies-syndroom wordt gekenmerkt door camptodactylie, lange gestalte, scoliose, en gehoorverlies (CATSHL). Het werd beschreven bij ongeveer 30 individuen uit zeven generaties van eenzelfde familie. Het syndroom wordt veroorzaakt door een missense-mutatie in het gen <i>FGFR3</i>, die leidt tot partieel functieverlies van het gecodeerde proteïne, dat een negatieve regulator is van botgroei."},"pt":{"name":"Síndrome de camptodactilia-estatura elevada-escoliose-perda de audição"},"pl":{"name":"Kamptodaktylia - wysoki wzrost - skolioza - utrata słuchu","synonyms":["Zespół CATSHL"]},"cs":{"name":"Syndrom zahrnující kamptodaktylii, velký vzrůst, skoliózu a ztrátu sluchu","synonyms":["CATSHL syndrom"]},"uk":{"name":"Синдром камптодактилія-високорослості-сколіозу-втрати слуху","synonyms":["Синдром камптодактилії - високого зросту-сколіозу-глухоти","Синдром CATSHL"],"definition":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth."},"zh":{"name":"先天性指屈曲-身材高大-脊椎侧凸-听力丧失综合征","synonyms":["先天性指屈曲-身材高大-脊椎侧凸-耳聋综合征"]},"tr":{"name":"Kamptodaktili-uzun boy-skolyoz-işitme kaybı sendromu","synonyms":["CATSHL sendromu","Camptodactyly-long boy-skolyoz-sağırlık sendromu"]}},"xrefs":[{"source":"OMIM","code":"610474","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1264975995"},{"source":"MONDO","code":"0012504","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537975","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864852","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10012","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"orpha":93420,"name":"FGFR3-related chondrodysplasia","classifications":[156]}],"children":[],"genes":[{"symbol":"FGFR3","name":"fibroblast growth factor receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17033969[PMID]_24864036[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100491","label":"Abnormality of lower limb joint","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null}]}}