{"orpha":950,"name":"Acrodysostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acrodysostosis with or without multiple hormonal resistance","Acrodysplasia","Arkless-Graham syndrome","Maroteaux-Malamut syndrome"],"definition":"An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-950/","orphanet_url":"https://www.orpha.net/en/disease/detail/950","names":{"fr":{"name":"Acrodysostose","synonyms":["Acrodysplasie","Syndrome d'Arkless-Graham","Syndrome de Maroteaux-Malamut"],"definition":"Dysplasie acromélique qui se caractérise par une brachydactylie sévère, une dysostose périphérique avec dysostose faciale, une hypoplasie nasale et un retard de développement."},"de":{"name":"Akrodysostose","synonyms":["Akrodysostose mit oder ohne multiple Hormonresistenz","Akrodysplasie","Arkless-Graham-Syndrom","Maroteaux-Malamut-Syndrom"],"definition":"Eine akromele Dysplasie, die durch schwere Brachydaktylie, periphere Dysostose mit Gesichtsdysostose, nasale Hypoplasie und Entwicklungsverzögerung gekennzeichnet ist."},"es":{"name":"Acrodisostosis","synonyms":["Síndrome de Arkless-Graham","Síndrome de Maroteaux-Malamut","Acrodisostosis con o sin resistencia hormonal múltiple","Acrodisplasia"],"definition":"Es una displasia acromélica caracterizada por braquidactilia grave, disostosis periférica con afectación facial, hipoplasia nasal y retraso del desarrollo."},"it":{"name":"Acrodisostosi","synonyms":["Acrodisostosi con o senza resistenza multipla agli ormoni","Acrodisplasia","Sindrome di Arkless-Graham","Sindrome di Maroteaux-Malamut"],"definition":"L'acrodisostosi (ACRDYS) è una displasia acromelica caratterizzata da brachidattilia grave, disostosi periferica e facciale, ipoplasia del naso e ritardo dello sviluppo."},"nl":{"name":"Acrodysostose","synonyms":["Acrodysostose met of zonder meervoudige hormoonresistentie","Acrodysplasie","Syndroom van Arkless-Graham","Syndroom van Maroteaux-Malamut"],"definition":"Een acromele dysplasie die gekarakteriseerd wordt door ernstige brachydactylie, perifere dysostose met faciale dysostose, nasale hypoplasie, en ontwikkelingsachterstand."},"pt":{"name":"Acrodisostose","synonyms":["Acrodisostose com ou sem resistência hormonal múltipla","Acrodisplasia","Síndrome Arkless-Graham","Síndrome Maroteaux-Malamut"]},"pl":{"name":"Dyzostoza kończynowa","synonyms":["Akrodyzostoza","Zespół Arklessa i Grahama","Zespół Maroteaux i Malamuta"]},"cs":{"name":"Akrodysostóza","synonyms":["Akrodysplázie","Arklessův-Grahamův syndrom","Maroteauxův-Malamutův syndrom","Arkless-Grahamův syndrom","Maroteaux-Malamutův syndrom"]},"uk":{"name":"Акродизостоз","synonyms":["Акродизостоз з множинною гормональною резистентністю або без неї","Акродисплазія","Синдром Арклесса-Грема","Синдром Марото-Маламута"],"definition":"An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay."},"zh":{"name":"肢端骨发育不全","synonyms":["Maroteaux-Malamut综合征"]},"tr":{"name":"Akrodisostoz","synonyms":["Akrodisplazi","Arkless-Graham sendromu","Maroteaux-Malamut sendromu"]}},"xrefs":[{"source":"OMIM","code":"101800","qualifier":"BTNT","icd_relation":null,"validated":false},{"source":"OMIM","code":"614613","qualifier":"BTNT","icd_relation":null,"validated":false},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"477546932"},{"source":"MONDO","code":"0019797","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538179","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220659","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5724","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1240,"name":"Metaphyseal acroscyphodysplasia","status":"inactive"},{"type":"Referred to","orpha":1795,"name":"OBSOLETE: Peripheral dysostosis","status":"inactive"},{"type":"Referred to","orpha":280651,"name":"OBSOLETE: Acrodysostosis with multiple hormone resistance","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":155899,"name":"Mandibulofacial dysostosis","classifications":[147,156,199,200,209]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"PRKAR1A","name":"protein kinase cAMP-dependent type I regulatory subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"21651393[PMID]_22464250[PMID]_22464252[PMID]","hgnc":"9388","ensembl":"ENSG00000108946","omim":"188830","loci":["17q24.2"]},{"symbol":"PDE4D","name":"phosphodiesterase 4D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22464250[PMID]_22464252[PMID]","hgnc":"8783","ensembl":"ENSG00000113448","omim":"600129","loci":["5q11.2-q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000055","label":"Abnormality of female external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006059","label":"Cone-shaped metacarpal epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}