{"orpha":263482,"name":"Spondyloepimetaphyseal dysplasia, Maroteaux type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudo-Morquio syndrome type 2","Pseudo-Morquio type II syndrome","SEMD, Maroteaux type","SEMD-M"],"definition":"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263482/","orphanet_url":"https://www.orpha.net/en/disease/detail/263482","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type Maroteaux","synonyms":["SEMD type Maroteaux","SEMD-M","Syndrome pseudo-Morquio type 2"],"definition":"Type très rare de dysplasie spondylo-épiphysaire décrit à ce jour chez moins de 10&nbsp;patients, caractérisé sur le plan clinique par une dysplasie épiphysaire, une petite taille apparaissant dès la petite enfance, un cou court, des mains et des pieds courts et trapus, une scoliose, un genu valgum, une anomalie du bassin, une ostéoporose et une arthrose."},"de":{"name":"Dysplasie, spondyloepiphysäre, Typ Maroteaux","synonyms":["Pseudo-Morquio-Syndrom Typ 2","SEMD, Maroteaux-Typ","SEMD-M"],"definition":"Die Spondyloepiphysäre Dysplasie, Typ Maroteaux ist ein sehr seltener Typ der Spondyloepiphysären Dysplasie (s. dort) und wurde bisher bei weniger als 10 Patienten beschrieben. Klinische Kennzeichen sind dysplastische Epiphysen, im Säuglingsalter beginnender Kleinwuchs, kurzer Hals, kurze und plumpe Hände und Füße, Skoliose, Genu valgum, abnormes Becken, Osteoporose und Osteoarthritis."},"es":{"name":"Displasia espondiloepimetafisaria tipo Maroteaux","synonyms":["SEMD tipo Maroteaux","SEMD-M","Síndrome pseudo-Morquio tipo 2","Síndrome pseudo-Morquio tipo II"],"definition":"La displasia espondiloepifisaria tipo Maroteaux es un tipo muy poco frecuente de displasia espondiloepifisaria (consulte este término), descrito en menos de 10 pacientes hasta la fecha, que se caracteriza por epífisis displásica, estatura baja de aparición en la infancia, cuello corto, manos y pies cortos y regordetes, escoliosis, genu valgo, pelvis anormal, osteoporosis y osteoratritis."},"it":{"name":"Displasia spondiloepimetafisaria tipo Maroteaux","synonyms":["SEMD, tipo Maroteaux","SEMD-M","Sindrome pseudo-Morquio tipo 2","Sindrome pseudo-Morquio tipo II","Sindrome pseudo-Morquio, tipo 2"],"definition":"La displasia spondiloepifisaria tipo Maroteaux è una forma molto rara di displasia spondiloepifisaria (si veda questo termine), descritta finora in meno di 10 pazienti e caratterizzata da displasia delle epifisi, bassa statura ad esordio nel neonato, collo corto, mani e piedi corti e tozzi, scoliosi, genu valgum, anomalie del bacino, osteoporosi e osteoartrite."},"nl":{"name":"Spondylo-epifysaire dysplasie, Maroteaux-type","synonyms":["Pseudo-Morquio-syndroom type 2","Pseudo-Morquio-syndroom type II","SEMD, Maroteaux-type","SEMD-M"],"definition":"Een zeer zeldzaam type van spondylo-epifysaire dysplasie, tot op heden beschreven bij minder dan 10 patiënten, en klinisch gekenmerkt door dysplastische epifysen, kleine gestalte vanaf de zuigelingentijd, korte hals, korte en stompe handen en voeten, scoliose, genu valgum (X-benen), abnormaal bekken, osteoporose, en osteoartritis."},"pt":{"name":"Displasia espondiloepifisária, tipo Maroteaux","synonyms":["Síndrome pseudo-Morquio tipo 2","Síndrome pseudo-Morquio tipo II","SEMD, tipo Maroteaux","SEMD-M"]},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa typu Maroteaux","synonyms":["Zespół pseudo-Morquio typu 2"]},"cs":{"name":"Spondyloepifyzární dysplázie, Maroteauxův typ","synonyms":["Pseudo-Morquioův syndrom, typ 2"]},"uk":{"name":"Спондилоепіметафізарна дисплазія, тип Марото","synonyms":["Синдром псевдо-Моркіо, тип 2","Синдром псевдо-Моркіо типу II","SEMD, тип Maroteaux","SEMD-M"],"definition":"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis."},"zh":{"name":"脊椎骨骺发育不良，Maroteaux型","synonyms":["假性Morquio综合征2型"],"definition":"Maroteaux脊柱骨骺发育不良是一种非常罕见的骨骺发育不良类型(见该词条)，迄今在不到10名患者中描述，临床特征为骨骺发育不良，婴儿期出现身材矮小，颈部短小，手脚矮胖，脊柱侧弯，膝外翻，骨盆异常，骨质疏松和骨关节炎。"},"tr":{"name":"Spondiloepifizeal displazi, Maroteaux tipi","synonyms":["Psedö-Morquio sendromu tip 2"]}},"xrefs":[{"source":"OMIM","code":"184095","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"231279233"},{"source":"MONDO","code":"0008473","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3159322","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"994","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2646,"name":"Parastremmatic dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":364820,"name":"TRPV4-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"TRPV4","name":"transient receptor potential cation channel subfamily V member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20503319[PMID]_24830047[PMID]","hgnc":"18083","ensembl":"ENSG00000111199","omim":"605427","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"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":null}