{"orpha":1517,"name":"Cantú syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital hypertrichosis-acromegaloid facial features spectrum","Congenital hypertrichosis-coarse facial features spectrum","Hypertrichotic osteochondrodysplasia"],"definition":"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1517/","orphanet_url":"https://www.orpha.net/en/disease/detail/1517","names":{"fr":{"name":"Syndrome de Cantú","synonyms":["Ostéochondrodysplasie hypertrichotique","Spectre hypertrichose congénitale-faciès acromégaloïde"],"definition":"Le syndrome de Cantu est un syndrome rare associant une hypertrichose congénitale, une ostéochondrodysplasie, une cardiomégalie et une dysmorphie faciale."},"de":{"name":"Cantú-Syndrom","synonyms":["Cantu-Syndrom","Hypertrichose mit Osteochondrodysplasie vom Typ Cantú"],"definition":"Das Cantu-Syndrom ist eine seltene Krankheit mit kongenitaler Hypertrichose, Osteochondrodysplasie, Kardiomegalie und Dysmorphien."},"es":{"name":"Síndrome de Cantú","synonyms":["Espectro de hipertricosis congénita-apariencia facial acromegaloide","Espectro de hipertricosis congénita-rasgos faciales toscos","Osteocondrodisplasia hipertricótica"],"definition":"El síndrome de Cantú es un síndrome raro caracterizado por hipertricosis congénita, osteocondrodisplasia, cardiomegalia y dismorfia."},"it":{"name":"Osteocondrodisplasia ipertricotica tipo Cantu"},"nl":{"name":"Syndroom van Cantú","synonyms":["Congenitale hypertrichose - acromegaloïde gelaatskenmerken-spectrum","Congenitale hypertrichose - grove gelaatskenmerken-spectrum","Hypertrichotische osteochondrodysplasie"],"definition":"Een zeldzame aandoening, gekenmerkt door congenitale hypertrichose, osteochondrodysplasie, cardiomegalie, en dysmorfie."},"pt":{"name":"Síndrome Cantú","synonyms":["Hipertricose congénita-espectro de características faciais acromegalóides","Hipertricose congénita-espectro de características faciais grosseiras","Osteocondrodisplasia hipertricótica"],"definition":"A síndrome de Cantu é uma doença rara caracterizada por hipertricose congénita, osteocondrodisplasia, cardiomegalia e dismorfismo."},"pl":{"name":"Osteochondrodysplazja hipertrichotyczna typu Cantu","synonyms":["Zespół Cantu"]},"cs":{"name":"Hypertrichotická osteochondrodysplázie, Cantuův typ","synonyms":["Cantúův syndrom"]},"uk":{"name":"Синдром Канту","synonyms":["Вроджений гіпертрихоз-акромегалоїдний спектр рис обличчя","Вроджений гіпертрихоз - спектр грубих рис обличчя","Гіпертрихотична остеохондродисплазія"],"definition":"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism."},"zh":{"name":"多毛性骨软骨发育不良，Cantu型"},"tr":{"name":"Hipertrikotik osteokondrodisplazi, Cantu tipi"}},"xrefs":[{"source":"OMIM","code":"239850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1451669698"},{"source":"MONDO","code":"0009406","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535572","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795905","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8585","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":965,"name":"Acromegaloid facial appearance syndrome","status":"inactive"},{"type":"Moved to","orpha":966,"name":"Hypertrichosis-acromegaloid facial appearance syndrome","status":"inactive"},{"type":"Referred to","orpha":2765,"name":"OBSOLETE: Hypertrichotic osteochondrodysplasia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"ABCC9","name":"ATP binding cassette subfamily C member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22608503[PMID]_22610116[PMID]","hgnc":"60","ensembl":"ENSG00000069431","omim":"601439","loci":["12p12.1"]},{"symbol":"KCNJ8","name":"potassium inwardly rectifying channel subfamily J member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24700710[PMID]_24176758[PMID]","hgnc":"6269","ensembl":"ENSG00000121361","omim":"600935","loci":["12p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"28690487[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28690487[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007665","label":"Curly eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004634","label":"Cuboid-shaped vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001869","label":"Deep plantar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null}]}}