{"orpha":254,"name":"Spondylometaphyseal dysplasia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254/","orphanet_url":"https://www.orpha.net/en/disease/detail/254","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire","definition":"Les dysplasies spondylo-métaphysaires constituent un groupe hétérogène d'affections avec troubles de la marche et de la croissance qui se manifestent au cours de la deuxième année de vie."},"de":{"name":"Dysplasie, spondylometaphysäre"},"es":{"name":"Displasia espondilometafisaria","definition":"Las displasias espondilometafisarias constituyen un grupo heterogéneo de enfermedades asociadas a problemas de la marcha y del crecimiento, que se manifiestan a lo largo del segundo año de vida."},"it":{"name":"Displasia spondilometafisaria"},"nl":{"name":"Spondylometafysaire dysplasie","definition":"Spondylometafysaire dysplasieën vormen een heterogene groep van aandoeningen geassocieerd met loop- en groeistoornissen die merkbaar worden tijdens het tweede levensjaar."},"pt":{"name":"Displasia espondilo-metafisária","definition":"As displasias espondilometafisárias são um grupo heterogéneo de doenças associadas com problemas da marcha e do crescimento que se tornam evidentes durante o segundo ano de vida."},"pl":{"name":"Dysplazja kręgowo-przynasadowa"},"cs":{"name":"Spondylometafyzární dysplázie"},"uk":{"name":"Спондилометафізарна дисплазія","definition":"Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life."},"zh":{"name":"脊椎干骺端发育不良"},"tr":{"name":"Spondilometafizeal displazi"}},"xrefs":[{"source":"ICD-11","code":"LD24.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"181781948"},{"source":"MONDO","code":"0016763","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16763","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4759767","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2641,"name":"OBSOLETE: Micromelic dwarfism, Fryns type","status":"inactive"},{"type":"Referred to","orpha":163678,"name":"OBSOLETE: Unclassified spondylometaphyseal dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":168549,"name":"Axial spondylometaphyseal dysplasia","type":"Disease"},{"orpha":166272,"name":"Odontochondrodysplasia","type":"Malformation syndrome"},{"orpha":448267,"name":"Regressive spondylometaphyseal dysplasia","type":"Malformation syndrome"},{"orpha":1855,"name":"Spondyloenchondrodysplasia","type":"Malformation syndrome"},{"orpha":93315,"name":"Spondylometaphyseal dysplasia, 'corner fracture' type","type":"Disease"},{"orpha":168555,"name":"Spondylometaphyseal dysplasia, A4 type","type":"Disease"},{"orpha":168544,"name":"Spondylometaphyseal dysplasia, Golden type","type":"Disease"},{"orpha":93314,"name":"Spondylometaphyseal dysplasia, Kozlowski type","type":"Disease"},{"orpha":93316,"name":"Spondylometaphyseal dysplasia, Schmidt type","type":"Disease"},{"orpha":168552,"name":"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome","type":"Disease"},{"orpha":85167,"name":"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome","type":"Disease"},{"orpha":589435,"name":"Spondylometaphyseal dysplasia-corneal dystrophy syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}