{"orpha":93346,"name":"Spondyloepimetaphyseal dysplasia congenita, Strudwick type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth, with shortened limbs and other skeletal abnormalities, including lordosis, kyphoscoliosis, flattened vertebrae, coxa vara, and abnormal epiphyses and metaphyses evident within the first year of life. The presence of metaphyseal dysplasia differentiates this condition from spondyloepiphyseal dysplasia congenita (SEDC). Ocular abnormalities, such as myopia, are frequently associated. Characteristic facial features include hypertelorism, a flat facial profile, and the Pierre Robin sequence. An increased risk of cervical (atlantoaxial) instability due to delayed ossification of the odontoid process has also been reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93346/","orphanet_url":"https://www.orpha.net/en/disease/detail/93346","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type Strudwick","definition":"Dysplasie spondylo-épimétaphysaire rare caractérisée par une petite taille disproportionnée dès la naissance, avec un raccourcissement des membres et d'autres anomalies squelettiques, notamment une lordose, une cyphoscoliose, un aplatissement des vertèbres, une coxa vara, ainsi que des anomalies des épiphyses et des métaphyses visibles dès la première année de vie. La présence d'une dysplasie métaphysaire distingue cette forme de la dysplasie spondylo-épiphysaire congénitale (SEDC). Des anomalies oculaires à type de myopie, sont fréquemment associées. Une dysmorphie faciale caractéristique comprend un hypertélorisme, un profil du visage aplati et la séquence de Pierre Robin. Un risque accru d'instabilité cervicale (atlanto-axiale) due à un retard d'ossification du processus odontoïde a également été rapporté chez certains patients."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ Strudwick","definition":"Die Kongenitale Spondylo-epi-metaphysäre Dysplasie Typ Strudwick ist gekennzeichnet durch angeborenen dysproportinierten Kleinwuchs (mit sehr kurzem Stamm und verkürzten Gliedmaßen) und Skelettanomalien (Lordose, Skoliose, abgeflachte Wirbel, Pectus carinatum, Coxa vara, Klumpfuß und abnorme Epiphysen und Metaphysen)."},"es":{"name":"Displasia espondiloepimetafisaria tipo Strudwick","definition":"La displasia espondiloepimetafisaria congénita, tipo Strudwick, se caracteriza por una talla baja desproporcionada desde el nacimiento (con un tronco y extremidades muy cortos) y por anomalías esqueléticas (lordosis, escoliosis, vértebras aplanadas, pectus carinatum, coxa vara, pie equinovaro, y anomalías de la epífisis o de la metáfisis)."},"it":{"name":"Displasia spondiloepimetafisaria congenita, tipo Strudwick"},"nl":{"name":"Spondylo-epimetafysaire dysplasia congenita, Strudwick-type","definition":"Spondylo-epimetafysaire dysplasia congenita, Strudwick-type wordt gekenmerkt door disproportioneel kleine gestalte vanaf de geboorte (met zeer korte romp en abnormaal korte ledematen) en skeletanomalieën (lordose, scoliose, afgeplatte wervels, pectus carinatum (kippenborst), coxa vara, klompvoet, en abnormale epifysen of metafysen)."},"pt":{"name":"Displasia espondiloepimetafisária congénita, tipo Strudwick","definition":"A displasia espondiloepimetafisária congénita, tipo Strudwick é caracterizada por baixa estatura desproporcionada desde o nascimento (com um tronco muito curto e membros curtos) e anomalias esqueléticas (lordose, escoliose, vértebras achatadas, pectus carinatum, coxa vara, pé boto, e anomalias das epífises e metáfises)."},"pl":{"name":"Wrodzona dysplazja kręgowo-nasadowo-przynasadowa typu Strudwicka"},"cs":{"name":"Spondyloepimetafyzární vrozená dysplázie, Strudwickův typ"},"uk":{"name":"Спондилоепіметафізарна дисплазія вроджена, тип Струдвіка","definition":"Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)."},"zh":{"name":"先天性脊椎骨骺发育不良，Strudwick型","definition":"Strudwick型先天性脊椎骨骺干骺端发育不良，特征是出生时不成比例的身材短小（躯干很短，四肢短）和骨骼异常（脊柱前凸、脊柱侧凸、扁平椎骨、鸡胸、髋内翻、马蹄内翻足和骨骺或干骺端异常）。"},"tr":{"name":"Spondiloepimetafizyal displazi konjenita, Strudwick tipi"}},"xrefs":[{"source":"OMIM","code":"184250","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":"1090803595"},{"source":"MONDO","code":"0008476","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537501","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0700635","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"134","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":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7550321[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2020-09-18","source":"7550321[PMID]_31021589[PMID]","terms":[{"hpo":"HP:0045060","label":"Aplasia/hypoplasia involving bones of the extremities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008462","label":"Cervical instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003173","label":"Hypoplastic pubic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010585","label":"Small epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001216","label":"Delayed ossification of carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008755","label":"Laryngotracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005193","label":"Restricted large joint movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null}]}}