{"orpha":93316,"name":"Spondylometaphyseal dysplasia, Schmidt type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spondylometaphyseal dysplasia with severe genu valgum","Spondylometaphyseal dysplasia, Algerian type"],"definition":"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93316/","orphanet_url":"https://www.orpha.net/en/disease/detail/93316","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire type Schmidt","synonyms":["Dysplasie spondylo-métaphysaire avec genu valgum sévère"],"definition":"La dysplasie spondylométaphysaire type Schmidt se caractérise par une petite taille, une myopie, un bassin étroit,, une cypho-scoliose progressive, une déformation du poignet, , un <i>genu valgum</i> sévère, des os longs courts, et une dysplasie métaphysaire sévère avec des anomalies rachidiennes modérées et des anomalies minimes des mains et des pieds."},"de":{"name":"Dysplasie, spondylometaphysäre, Typ Schmidt","synonyms":["Dysplasie, spondylometaphysäre, algerischer Typ","Dysplasie, spondylometaphysäre, mit schwerem Genu Valgum"],"definition":"Der Typ Schmidt der Spondylo-metaphysären Dysplasie ist gekennzeichnet durch Kleinwuchs, schweres Genu valgum, kleines Becken, progrediente Kyphoskoliose, Deformität des Handgelenks, Myopie, verkürzte lange Knochen und schwere metaphysäre Dysplasie mit moderaten Veränderungen an der Wirbelsäule und minimalen Veränderungen an Händen und Füßen."},"es":{"name":"Displasia espondilometafisaria tipo Schmidt","synonyms":["Displasia espondilometafisaria con genu valgo grave","Displasia espondilometafisaria tipo Argelia"],"definition":"La displasia espondilometafisaria tipo Schmidt se caracteriza por: talla baja, genu valgo grave, pélvis pequeña, cifoescoliosis progresiva, deformidad de la muñeca, miopía, huesos largos cortos y displasia metafisaria grave, con cambios moderados en la columna y cambios mínimos en las manos y los pies."},"it":{"name":"Displasia spondilometafisaria, tipo Schmidt","synonyms":["Displasia spondilometafisaria con ginocchio valgo grave","Displasia spondilometafisaria, tipo algerino"]},"nl":{"name":"Spondylometafysaire dysplasie, Schmidt-type","synonyms":["Spondylometafysaire dysplasie met ernstige genu valgum","Spondylometafysaire dysplasie, Algerijns type"],"definition":"Spondylometafysaire dysplasie, Schmidt-type wordt gekenmerkt door kleine gestalte, myopie, klein bekken, progressieve kyfoscoliose, deformiteit van pols, ernstige genu valgum (X-benen), korte pijpbeenderen, en ernstige metafysaire dysplasie met matige veranderingen van wervelkolom en minimale veranderingen van handen en voeten."},"pt":{"name":"Displasia espondilometafisária, tipo Schmidt","definition":"A displasia espondilometafisária tipo Schmidt é caracterizada por baixa estatura, joelho valgo grave, pélvis pequena, cifoescoliose progressiva, deformação do pulso, miopia, ossos longos curtos, e displasia metafisária grave com alterações moderadas da coluna e alterações mínimas das mãos e dos pés."},"pl":{"name":"Dysplazja kręgosłupowo-przynasadowa typu Schmidta","synonyms":["Dysplazja kręgosłupowo-przynasadowa typu algierskiego","Dysplazja kręgosłupowo-przynasadowa z cieżką postacią kolan koślwaych"]},"cs":{"name":"Spondylometafyzární dysplázie, Schmidtův typ","synonyms":["Spondylometafyzární dysplázie, alžírský typ","Spondylometafyzární dysplázie s těžkým genu valgum"]},"uk":{"name":"Спондилометафізарна дисплазія, тип Шмідта","synonyms":["Спондилометафізарна дисплазія з тяжким ступенем genu valgum","Спондилометафізарна дисплазія, алжирський тип"],"definition":"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet."},"zh":{"name":"脊椎干骺端发育不良，Schmidt 型","synonyms":["脊椎干骺端结构不良伴严重膝外翻"],"definition":"Schmidt型脊椎干骺端发育不良的特点是身材矮小、近视、骨盆小、进行性脊柱后凸畸形、手腕畸形、严重膝外翻、短长骨和严重的干骺端发育不良，脊柱改变为中度，手足改变非常轻微。"},"tr":{"name":"Spondilometafizyal displazi, Schmidt tipi","synonyms":["Spondilometafizyal displazi, Cezayir tipi","Ağır genu valgum ile seyreden spondilometafizyal displazi"]}},"xrefs":[{"source":"OMIM","code":"184253","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":"1092012084"},{"source":"MONDO","code":"0008478","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535794","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866688","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"504","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":254,"name":"Spondylometaphyseal 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":"23653587[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23653587[PMID]_[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":"2021-08-23","source":"3368247[PMID]_23653587[PMID]","terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010574","label":"Abnormality of the epiphysis of the femoral head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002867","label":"Abnormality of the ilium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003375","label":"Narrow greater sciatic notch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100866","label":"Short iliac bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000185","label":"Cleft soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008833","label":"Irregular acetabular roof","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003796","label":"Irregular iliac crest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null}]}}