{"orpha":2457,"name":"Mandibuloacral dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MAD"],"definition":"Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2457/","orphanet_url":"https://www.orpha.net/en/disease/detail/2457","names":{"fr":{"name":"Dysplasie mandibulo-acrale","definition":"Maladie osseuse génétique rare caractérisée par un retard de croissance, un développement post-natal d'anomalies craniofaciales à type d'hypoplasie mandibulaire ou d'acro-ostéolyse progressive, une pigmentation sous la forme de taches ou de plaques, une atrophie cutanée et une lipodystrophie partielle ou généralisée."},"de":{"name":"Dysplasie, mandibulo-akrale","synonyms":["MAD"]},"es":{"name":"Displasia acromandibular","synonyms":["MAD"],"definition":"Es un trastorno óseo genético poco frecuente caracterizado por retraso del crecimiento, anomalías craneofaciales de desarrollo postnatal que incluyen la hipoplasia mandibular, osteólisis acra progresiva, pigmentación cutánea moteada o irregular, atrofia cutánea y lipodistrofia parcial o generalizada."},"it":{"name":"Displasia mandiboloacrale","synonyms":["MAD"],"definition":"La displasia mandiboloacrale (MAD) è una malattia scheletrica rara di origine genetica, caratterizzata da ritardo della crescita, anomalie craniofacciali ad esordio postnatale, che comprendono l'ipoplasia mandibolare, l'acro-osteolisi progressiva, la pigmentazione a chiazze o con macchie, l'atrofia della cute e la lipodistrofia parziale o diffusa."},"nl":{"name":"Mandibuloacrale dysplasie","synonyms":["MAD"],"definition":"Mandibuloacrale dysplasie (MAD) is een zeldzame, genetische botstoornis die gekarakteriseerd wordt door groeiachterstand, postnatale ontwikkeling van craniofaciale anomalieën waaronder mandibulaire hypoplasie, progressieve acrale osteolyse, gespikkelde of fragmentarische pigmentatie, huidatrofie, en partiële of gegeneraliseerde lipodystrofie."},"pt":{"name":"Displasia mandíbulo-acral","synonyms":["MAD"]},"pl":{"name":"Dysplazja żuchowo-obojczykowa","synonyms":["MAD"]},"cs":{"name":"Mandibuloakrální dysplázie","synonyms":["MAD"]},"uk":{"name":"Мандибулоакральна дисплазія","synonyms":["MAD"],"definition":"Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy."},"zh":{"name":"下颌骨肢端发育异常","synonyms":["MAD"]},"tr":{"name":"Mandibuloakral displazi","synonyms":["MAD"]}},"xrefs":[{"source":"OMIM","code":"248370","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608612","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.6Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1687046570"},{"source":"MONDO","code":"0016584","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432291","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11893","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[{"orpha":90153,"name":"Mandibuloacral dysplasia with type A lipodystrophy","type":"Clinical subtype"},{"orpha":90154,"name":"Mandibuloacral dysplasia with type B lipodystrophy","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12075506[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"],"via":{"orpha":90153,"name":"Mandibuloacral dysplasia with type A lipodystrophy"}},{"symbol":"ZMPSTE24","name":"zinc metallopeptidase STE24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12913070[PMID]_18435794[PMID]","hgnc":"12877","ensembl":"ENSG00000084073","omim":"606480","loci":["1p34.2"],"via":{"orpha":90154,"name":"Mandibuloacral dysplasia with type B lipodystrophy"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"24123119[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24123119[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-12","source":"27710244[PMID]_12788894[PMID]_1951457[PMID]_1939519[PMID]_25629449[PMID]_12913070[PMID]_18796515[PMID]_11836320[PMID]_1939519[PMID]","terms":[{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005781","label":"Contractures of the large joints","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000468","label":"Increased adipose tissue around the neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003635","label":"Loss of subcutaneous adipose tissue in limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000460","label":"Narrow nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030809","label":"Abnormal tongue morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001090","label":"Abnormally large globe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001870","label":"Acroosteolysis of distal phalanges (feet)","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011334","label":"Facial shape deformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000685","label":"Hypoplasia of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030781","label":"Increased circulating free fatty acid level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008993","label":"Increased intraabdominal fat","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009003","label":"Increased subcutaneous truncal adipose tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003809","label":"Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009839","label":"Osteolytic defects of the distal phalanges of the hand","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null}]}}