{"orpha":40,"name":"Acromesomelic dysplasia, Maroteaux type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .","note":null,"url":"https://raremap.alftech.space/d/ORPHA-40/","orphanet_url":"https://www.orpha.net/en/disease/detail/40","names":{"fr":{"name":"Dysplasie acromésomélique type Maroteaux","definition":"Dysplasie acromésomélique récessive autosomique rare, caractérisée par un retard statural sévère (taille adulte inférieure à 120 cm), une atteinte axiale et appendiculaire du squelette (raccourcissement des segments moyens et distaux des membres et raccourcissement vertébral). Il n'existe pas de dysmorphie faciale et l'intelligence est normale. Il s'agit d'une forme moins sévère par rapport à la dysplasie acromesomélique de type Grebe et la dysplasie acromesomélique de type Hunter-Thomson."},"de":{"name":"Dysplasie, akromesomele, Typ Maroteaux","definition":"Eine seltene autosomal-rezessive akromesomele Dysplasie, die durch einen schweren Kleinwuchs (Erwachsenengröße <120 cm), eine axiale und appendikuläre Beteiligung (Verkürzung der mittleren und distalen Segmente der Gliedmaßen und Verkürzung der Wirbelsäule) und ein normales Gesichtsaussehen und normale Intelligenz gekennzeichnet ist. Es handelt sich um eine weniger schwere Form als die Akromesomele Dysplasie Typ Grebe und die Akromesomele Dysplasie Typ Hunter-Thomson."},"es":{"name":"Displasia acromesomélica tipo Maroteaux","definition":"Es una forma de displasia acromesomélica de herencia autosómica recesiva caracterizada por talla baja extrema (talla adulta <120 cm) con afectación tanto axial como apendicular (acortamiento de los segmentos medio y distal de las extremidades y acortamiento vertebral), y con apariencia facial e inteligencia normales. Es una forma menos grave que la displasia acromesomélica tipo Grebe y que la displasia acromesomélica tipo Hunter-Thomson."},"it":{"name":"Displasia acromesomelica, tipo Maroteaux","definition":"La displasia acromesomelica tipo Maroteaux è una forma di displasia acromesomelica (si veda questo termine) a trasmissione autosomica recessiva, caratterizzata da nanismo grave (statura adulta > 120 cm) e interessamento assiale e appendicolare (accorciamento dei segmenti intermedi e distali degli arti e accorciamento vertebrale). La facies e l'intelligenza sono normali. Si tratta di una forma meno grave rispetto alla displasia acromesomelica tipo Gebe e tipo Hunter-Thomson (si vedano questi termini)."},"nl":{"name":"Acromesomele dysplasie, Maroteaux-type","synonyms":["Acromesomelische dysplasie, Maroteaux-type"],"definition":"Een zeldzame, autosomaal recessieve acromesomele dysplasie, gekarakteriseerd door ernstige dwerggroei (volwassen lengte minder dan 120 cm), zowel axiale als appendiculaire betrokkenheid (verkorting van de middelste en distale segmenten van ledematen en vertebrale verkorting), een normaal uiterlijk van het gelaat, en een normale intelligentie. Het is een minder erge vorm dan acromesomele dysplasie, Grebe-type, en acromesomele dysplasie, Hunter-Thomson-type."},"pt":{"name":"Displasia acromesomélica, tipo Maroteaux","definition":"Displasia acromesomélica autossómica recessiva rara, caracterizada por nanismo grave (altura adulta <120 cm), envolvimento axial e apendicular (encurtamento dos segmentos médio e distal dos membros e encurtamento vertebral), com fisionomia facial e inteligência normais. É uma forma menos grave do que a displasia acromesomélica tipo Grebe e a displasia acromesomélica tipo Hunter-Thomson."},"pl":{"name":"Dysplazja akromezomeliczna typu Maroteaux"},"cs":{"name":"Akromesomelická dysplázie, Maroteauxův typ"},"uk":{"name":"Акромезотеліальна дисплазія, тип Марото","definition":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type ."},"zh":{"name":"肢端肢中发育不良，Maroteaux型"},"tr":{"name":"Akromezomelik displazi, Maroteaux tipi"}},"xrefs":[{"source":"OMIM","code":"602875","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.9","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"29990978"},{"source":"MONDO","code":"0011275","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535661","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864356","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":953,"name":"OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93437,"name":"Acromesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"NPR2","name":"natriuretic peptide receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22691581[PMID]_15146390[PMID]","hgnc":"7944","ensembl":"ENSG00000159899","omim":"108961","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003086","label":"Acromesomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008422","label":"Vertebral wedging","frequency":"Frequent (79-30%)","criteria":null}]}}