{"orpha":163966,"name":"X-linked dominant chondrodysplasia, Chassaing-Lacombe type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome"],"definition":"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163966/","orphanet_url":"https://www.orpha.net/en/disease/detail/163966","names":{"fr":{"name":"Chondrodysplasie dominante liée à l'X type Chassaing-Lacombe","synonyms":["Syndrome de chondrodysplasie dominante lié à l'X-hydrocéphalie-microphtalmie"],"definition":"La chondrodysplasie dominante liée à l'X type Chassaing-Lacombe est une rare maladie osseuse héréditaire caractérisée par une chondrodysplasie, un retard de croissance intra-utérin (RCIU), une hydrocéphalie, et une dysmorphie faciale avec microphtalmie chez les garçons atteints."},"de":{"name":"Chondrodysplasie, X-chromosomal-dominante, Typ Chassaing-Lacombe","definition":"Der Typ Chassaing-Lacombe der X-chromosomal-dominanten Chondrodysplasie ist eine seltene Knochenkrankheit und gekennzeichnet durch Chondrodysplasie, intrauterine Wachstumsretardierung (IUGR), Hydrozephalus und faziale Dysmorphien bei den betroffenen männlichen Patienten."},"es":{"name":"Condrodisplasia dominante ligada al cromosoma X tipo Chassaing-Lacombe","synonyms":["Condrodisplasia dominante ligada al cromosoma X-hidrocefalia-microftalmia"],"definition":"La condrodisplasia dominante ligada al X de tipo Chassaing-Lacombe es una rara enfermedad ósea hereditaria, caracterizada por condrodisplasia, retraso del crecimiento intrauterino (RCIU), hidrocefalia y dismorfismo facial en los varones afectos."},"it":{"name":"Condrodisplasia dominante legata all'X, tipo Chassaing-Lacombe","synonyms":["Condrodisplasia dominante legata all'X - idrocefalia - microftalmia"],"definition":"La condrodisplasia dominante legata all'X tipo Chassaing-Lacombe è una malattia scheletrica rara caratterizzata da condrodisplasia, ritardo della crescita intrauterina (IUGR), idrocefalo e dismorfismi facciali nei maschi affetti."},"nl":{"name":"X-gebonden dominante chondrodysplasie, Chassaing-Lacombe-type","synonyms":["X-gebonden dominante chondrodysplasie - hydrocefalie - microftalmie-syndroom"],"definition":"X-gebonden dominante chondrodysplasie van het Chassaing-Lacombe-type is een zeldzame genetische botziekte gekenmerkt door chondrodysplasie, intra-uteriene groeiretardatie (IUGR), hydrocefalie en faciale dysmorfie bij de getroffen mannen."},"pt":{"name":"Condrodisplasia dominante ligada ao X, tipo Chassaing-Lacombe","synonyms":["Síndrome de condrodisplasia dominante ligada ao X-hidrocefalia-microftalmia"],"definition":"A condrodisplasia dominante ligada ao X, tipo Chassaing-Lacombe é uma doença óssea genética rara caracterizada por condrodisplasia, restrição do crescimento intrauterino, hidrocefalia e dismorfiafacial nos homens afetados."},"pl":{"name":"Dominująca chondrodysplazja sprzężona z chromosomem X, typ Chassainga i Lacombe'a","synonyms":["Dominująca chondrodysplazja sprzężona z chromosomem X - wodogłowie - małoocze"]},"cs":{"name":"X-vázaná dominantní chondrodysplázie, Chassaingův-Lacombův typ","synonyms":["Syndrom zahrnující X-vázanou dominantní chondrodysplázii, hydrocefalus a mikroftalmii","X-vázaná dominantní chondrodysplázie, Chassaing-Lacombův typ"]},"uk":{"name":"Х-зчеплена домінантна хондродисплазія, тип Шассена-Лакомба","synonyms":["Х-зчеплений домінантний синдром хондродисплазії-гідроцефалії-мікрофтальмії"],"definition":"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males."},"zh":{"name":"Chassaing-Lacombe型X连锁显性软骨发育不良","synonyms":["X连锁显性遗传软骨发育不良-脑积水-小眼畸形综合征"],"definition":"X连锁显性遗传软骨发育不良Chassaing-Lacombe型是一种罕见的遗传性骨骼疾病，其特征是软骨发育不良、宫内发育迟缓(IUGR)、脑积水，以及患病男性中具有面部畸形。"},"tr":{"name":"X'e bağlı dominant kondrodisplazi, Chassaing-Lacombe tipi","synonyms":["X'e bağlı baskın kondrodisplazi-hidrosefali-mikroftalmi sendromu"]}},"xrefs":[{"source":"OMIM","code":"300863","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010463","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304401","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"HDAC6","name":"histone deacetylase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20181727[PMID]","hgnc":"14064","ensembl":"ENSG00000094631","omim":"300272","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"16001442[PMID]_[EXPERT]"},{"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:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002866","label":"Hypoplastic iliac wing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005871","label":"Metaphyseal chondrodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006028","label":"Metaphyseal cupping of metacarpals","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008364","label":"Abnormality of the calcaneus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}