{"orpha":952,"name":"Acrofacial dysostosis, Weyers type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Curry-Hall syndrome","Weyers acrodental dysostosis","Weyers acrofacial dysostosis"],"definition":"A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-952/","orphanet_url":"https://www.orpha.net/en/disease/detail/952","names":{"fr":{"name":"Dysostose acrofaciale type Weyers","synonyms":["Dysostose acrodentale de Weyers","Dysostose acrofaciale de Weyers"],"definition":"Syndrome rare de dysplasie ectodermique avec anomalies osseuses caractérisé par une onychodystrophie, des anomalies de la mâchoire inférieure, du vestibule de la bouche et de la dentition, une polydactylie post-axiale, une croissance modérément limitée avec des membres courts et une intelligence normale. Bien que très similaire au syndrome d'Ellis-van Creveld, une maladie allélique et un autre type de ciliopathie, la dysostose acrofaciale type Weyers est généralement plus légère, sans anomalies cardiaques, transmise selon le mode autosomique dominant."},"de":{"name":"Dysostose, akrofaziale, Typ Weyers","synonyms":["Curry-Hall-Syndrom","Weyer-Dysostose, akrodentale"]},"es":{"name":"Disostosis acrofacial tipo Weyers","synonyms":["Disostosis acrodental de Weyer","Disostosis acrofacial de Weyer","Síndrome de Curry-Hall"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente con anomalías óseas en el maxilar inferior, y anomalías del vestíbulo oral y la dentición, polidactilia postaxial, onicodistrofia, retraso del crecimiento moderado con extremidades cortas, e inteligencia normal. Aunque se asemeja mucho al síndrome de Ellis-van Creveld, un trastorno alélico y otro tipo de ciliopatía, esta displasia suele ser una enfermedad más leve que no presenta anomalías cardíacas y que se hereda de manera autosómica dominante."},"it":{"name":"Disostosi acrofacciale, tipo Weyers","synonyms":["Disostosi acrodentale di Weyers","Disostosi acrofacciale di Weyers","Sindrome di Curry-Hall"],"definition":"La disostosi acro facciale, tipo Weyers (WAD), è una displasia ectodermica rara associata ad anomalie scheletriche, caratterizzata da onicodistrofia, anomalie della parte bassa della mandibola, del vestibolo orale e della dentizione, polidattilia postassiale, modesto difetto di crescita, arti corti e intelligenza normale. Questa condizione assomiglia alla sindrome di Ellis-van Creveld, della quale è una forma allelica, con espressività più lieve, senza cardiopatie, a trasmissione autosomica dominante."},"nl":{"name":"Acrofaciale dysostose, Weyers-type","synonyms":["Syndroom van Curry-Hall","Weyers acrodentale dysostose","Weyers acrofaciale dysostose"],"definition":"Een zeldzaam ectodermale dysplasiesyndroom met botafwijkingen, gekarakteriseerd door onychodystrofie; anomalieën van de onderkaak, het vestibulum oris (voorhof van de mond) en het gebit; postaxiale polydactylie; matig beperkte groei met korte ledematen; en normale intelligentie. Hoewel er sterke gelijkenis is met syndroom van Ellis-van Creveld (zie deze term), een allelische stoornis en ander type ciliopathie, is WAD meestal een mildere ziekte zonder aanwezigheid van hartafwijkingen en met een autosomaal dominante overerving."},"pt":{"name":"Disostose acrofacial, tipo Weyers","synonyms":["Disostose acrofacial de Weyers","Síndrome Curry-Hall"]},"pl":{"name":"Dyzostoza kończynowo-twarzowa typu Weyersa","synonyms":["Dyzostoza kończynowo-zębowa typu Weyersa","Dyzostoza kończynowo-zębowa Weyersa","Zespół Curry i Halla"]},"cs":{"name":"Akrofaciální dysostóza, Weyersův typu","synonyms":["Weyersova akrodentální dysostóza","Weyersova akrofaciální dysostóza","Curryův-Hallův syndrom","Curry-Hallův syndrom"]},"uk":{"name":"Акрофаціальний дизостоз, тип Вейерса","synonyms":["Синдром Каррі-Холла","Акродонтальний дизостоз Вейєра","Акрофаціальний дизостоз Вейєра"],"definition":"A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner."},"zh":{"name":"肢端面部骨发育不全，Weyers型","synonyms":["肢端面部骨发育不全，Weyers型"]},"tr":{"name":"Akrofasiyal disostoz, Weyers tipi","synonyms":["Curry-Hall sendromu","Weyers akrodental dizostoz","Weyers akrofasiyal dizostoz"]}},"xrefs":[{"source":"OMIM","code":"193530","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"547338814"},{"source":"MONDO","code":"0008673","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536695","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0457013","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"497","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]},{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"38173341[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]},{"symbol":"EVC","name":"EvC ciliary complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10700184[PMID]","hgnc":"3497","ensembl":"ENSG00000072840","omim":"604831","loci":["4p16.2"]},{"symbol":"EVC2","name":"EvC ciliary complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23220543[PMID]_22791528[PMID]_16404586[PMID]","hgnc":"19747","ensembl":"ENSG00000173040","omim":"607261","loci":["4p16.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["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:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000698","label":"Conical tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003502","label":"Mild short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006315","label":"Single median maxillary incisor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010557","label":"Overlapping fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null}]}}