{"orpha":168555,"name":"Spondylometaphyseal dysplasia, A4 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168555/","orphanet_url":"https://www.orpha.net/en/disease/detail/168555","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire type A4","definition":"Dysplasie osseuse primaire rare caractérisée par une petite taille disproportionnée, une déformation sévère du col du fémur, des anomalies marquées des métaphyses et une platyspondylie à type de déformation ovoïde du bord antérieur des corps vertébraux."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ A4"},"es":{"name":"Displasia espondilometafisaria tipo A4","definition":"La displasia espondilometafisaria tipo A4 es una displasia ósea primaria poco frecuente caracterizada por talla baja desproporcionada, malformación grave del cuello femoral, marcadas anomalías metafisarias y platispondilia consistente en cuerpos vertebrales ovoides con una malformación anterior en forma de lengua."},"it":{"name":"Displasia spondilometafisaria tipo A4","definition":"La displasia spondilometafisaria tipo A4 è una displasia scheletrica primitiva rara, caratterizzata da bassa statura sproporzionata, grave deformità della testa del femore, marcate anomalie delle metafisi e platispondilia, con corpi vertebrali ovoidali che presentano una deformità anteriore a forma di lingua."},"nl":{"name":"Spondylometafysaire dysplasie, A4-type","definition":"Spondylometafysaire dysplasie, A4-type is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door disproportioneel kleine gestalte, ernstige misvorming van femurhalzen, opvallende metafysaire afwijkingen en platyspondylie bestaande uit ovoïde wervellichamen met anterieur een tong-achtige misvorming."},"pt":{"name":"Displasia espondilometafisária, tipo A4"},"pl":{"name":"Dysplazja kręgowo-przynasadowa typu A4","definition":"*Dysplazja kręgowo-przynasadowa typu A4 jest rzadką, pierwotną dysplazją kostną, która charakteryzuje się nieproporcjonalnie niskim wzrostem, ciężką deformacją szyjki kości udowej, wyraźnymi nieprawidłowościami przynasad i spłaszczonymi kręgami z jajowatymi trzonami, których przednia część przypomina kształtem język."},"cs":{"name":"Spondylometafyzární dysplázie, typ A4"},"uk":{"name":"Спондилометафізарна дисплазія, тип А4","definition":"Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity."},"zh":{"name":"A4型脊柱干骺端发育不良","definition":"A4型脊椎干骺端发育不良是一种罕见的原发性骨发育异常，其主要临床表现为身材矮小、股骨颈严重畸形、干骺端明显异常、扁平椎骨伴卵圆形锥体和舌状前部畸形。"},"tr":{"name":"Spondilometafizer displazi, A4 tipi"}},"xrefs":[{"source":"OMIM","code":"609052","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"696316924"},{"source":"MONDO","code":"0012185","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563803","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836862","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"458","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":370019,"name":"Spondylometaphyseal dysplasia, Czarny-Ratajczak type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":254,"name":"Spondylometaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"9637426[PMID]_15517830[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9637426[PMID]_15517830[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"9637426[PMID]","terms":[{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002657","label":"Spondylometaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006603","label":"Flared, irregular rib ends","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null}]}}