{"orpha":93282,"name":"Spondyloepimetaphyseal dysplasia, PAPSS2 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spondyloepimetaphyseal dysplasia, Pakistani type"],"definition":"A rare spondyloepimetaphyseal dysplasia characterized by disproportionate short stature associated with variable manifestations, including short lower limbs, genu varum, genu valgum, mild brachydactyly, spinal deformity, such as kyphoscoliosis, abnormal gait, enlarged knee and ankle joints, patella dislocations, limited flexion in the metacarpophalangeal joints, precocious osteoarthropathy, stiffness, and pain.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93282/","orphanet_url":"https://www.orpha.net/en/disease/detail/93282","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type PAPPS2","synonyms":["Dysplasie spondylo-épimétaphysaire type Pakistani"],"definition":"Dysplasie spondylo-épimétaphysaire rare caractérisée par une petite taille disproportionnée associée à des manifestations variables, à savoir des membres inférieurs courts, un genu varum, un genu valgum, une brachydactylie légère, une déformation de la colonne vertébrale de type cyphoscoliose, une démarche anormale, une hypertrophie des articulations du genou et de la cheville, des luxations de la rotule, une flexion limitée des articulations métacarpophalangiennes, une arthropathie précoce, une raideur et des douleurs."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ PAPSS2","synonyms":["Spondyloepimetaphysäre Dysplasie, pakistanischer Typ"],"definition":"Eine seltene spondyloepimetaphysäre Dysplasie, die durch einen unverhältnismäßigen Kleinwuchs in Verbindung mit variablen Symptomen gekennzeichnet ist, darunter kurze untere Extremitäten, Genu varum, Genu valgum, leichte Brachydaktylie, Wirbelsäulenfehlbildungen wie Kyphoskoliose, abnormale Gangart, vergrößerte Knie- und Sprunggelenke, Patellaluxationen, eingeschränkte Beugung in den Metakarpophalangealgelenken, vorzeitige Osteoarthropathie, Steifheit und Schmerzen."},"es":{"name":"Displasia espondiloepifisaria tipo PAPSS2","synonyms":["Displasia espondiloepifisaria tipo paquistaní"],"definition":"Es una displasia espondiloepimetafisaria poco frecuente caracterizada por talla baja desproporcionada asociada a manifestaciones variables, como acortamiento de las extremidades inferiores, genu varo, genu valgo, braquidactilia leve, deformidades espinales (como cifoescoliosis),anomalías de la marcha, agrandamiento de las articulaciones de la rodilla y del tobillo, luxaciones de rótula, flexión limitada de las articulaciones metacarpofalángicas, osteoartropatía precoz, rigidez y dolor."},"it":{"name":"Displasia spondiloepimetafisaria, tipo pachistano"},"nl":{"name":"Spondylo-epimetafysaire dysplasie, PAPSS2-type","synonyms":["Spondylo-epimetafysaire dysplasie, Pakistani-type"],"definition":"Een zeldzame spondylo-epimetafysaire dysplasie, gekenmerkt door disproportioneel kleine gestalte geassocieerd met variabele manifestaties, waaronder korte onderste ledematen, genu varum (O-benen), genu valgum (X-benen), milde brachydactylie, misvorming van de wervelkolom zoals kyfoscoliose, abnormale gang, vergrote gewrichten van knie en enkel, luxatie van patella, beperkte buiging van metacarpofalangeale gewrichten, premature osteoartropathie, stijfheid, en pijn."},"pt":{"name":"Displasia espondiloepifisária tipo Pakistani","definition":"A displasia espondiloepimetafisária (SEMD) tipo Pakistani é caracterizada por baixa estatura, membros inferiores curtos e arqueados, braquidactilia ligeira, cifoscoliose, marcha anormal, articulações dos joelhos alargadas, osteoartropatia precoce e inteligência normal."},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa typu pakistańskiego","synonyms":["Spondyloepimetaphyseal dysplasia, Pakistani type"]},"cs":{"name":"Spondyloepimetafyzární dysplázie, typ PAPSS2","synonyms":["Spondyloepimetafyzární dysplázie, pakistánský typ"]},"uk":{"name":"Спондилоепіметафізарна дисплазія, тип PAPSS2","synonyms":["Спондилоепіметафізарна дисплазія, пакистанський тип"],"definition":"Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."},"zh":{"name":"脊椎骨骺发育不良， PAPSS2型","synonyms":["脊椎干骺端发育不全，Pakistani型"],"definition":"巴基斯坦型脊椎干骺端发育不良（SEMD）的特点是身材矮小，下肢短而弯曲，轻度短指/趾畸形，脊柱后凸畸形，步态异常，膝关节增大，早发性骨关节病，智力正常。"},"tr":{"name":"Spondiloepimetafizyal displazi, PAPSS2 tipi","synonyms":["Spondiloepimetafizyal displazi, Pakistan tipi"]}},"xrefs":[{"source":"OMIM","code":"612847","qualifier":"NTBT","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":"136947530"},{"source":"MONDO","code":"0019666","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567551","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748515","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93423,"name":"Sulfation-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"PAPSS2","name":"3'-phosphoadenosine 5'-phosphosulfate synthase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9771708[PMID]","hgnc":"8604","ensembl":"ENSG00000198682","omim":"603005","loci":["10q23.2-q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"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}