{"orpha":93314,"name":"Spondylometaphyseal dysplasia, Kozlowski type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93314/","orphanet_url":"https://www.orpha.net/en/disease/detail/93314","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire type Kozlowski","definition":"La dysplasie spondylométaphysaire type Kozlowski est caractérisée par une petite taille (nanisme au tronc court), une scoliose, des anomalies métaphysaires du fémur (évidentes au niveau du col du fémur et de la région trochantérienne), une coxa vara et une platyspondylie généralisée."},"de":{"name":"Dysplasie, spondylometaphysäre, Typ Kozlowski","definition":"Der Typ Kozlowski der Spondylo-metaphysären Dysplasie ist gekennzeichnet durch Kleinwuchs als Folge des verkürzten Stamms, Skoliose, Veränderungen der Femurmetaphyse (stark ausgeprägt im Femurhals und im Bereich des Trochanters), Coxa vara und generalisierte Platyspondylie. Die Intelligenz ist in der Regel normal."},"es":{"name":"Displasia espondilometafisaria tipo Kozlowski","definition":"La displasia espondilometafisaria, tipo Kozlowski, se caracteriza por talla baja (enanismo de tronco corto), escoliosis, anomalías metafisarias en el fémur (prominente en el cuello femoral y en el área trocantérica), coxa vara y platispondilia generalizada."},"it":{"name":"Displasia spondilometafisaria, tipo Kozlowski"},"nl":{"name":"Spondylometafysaire dysplasie, Kozlowski-type","definition":"Spondylometafysaire dysplasie, Kozlowski-type, wordt gekenmerkt door kleine gestalte (dwerggroei met korte romp), scoliose, metafysaire afwijkingen van femur (prominent in femurhals en trochantair gebied), coxa vara, en gegeneraliseerde platyspondylie."},"pt":{"name":"Displasia espondilometafisária, tipo Kozlowski","definition":"A displasia espondilometafisária tipo Kozlowski é caracterizada por baixa estatura (nanismo com tronco curto), escoliose, anomalias metafisárias no fémur (proeminentes no colo do fémur e na área trocantérica), coxa vara e platispondilia generalizada."},"pl":{"name":"Dysplazja kręgosłupowo-przynasadowa typu Kozlowskiego"},"cs":{"name":"Spondylometafyzární dysplázie, Kozlowskeho typ"},"uk":{"name":"Спондилометафізарна дисплазія, тип Козловського","definition":"Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly."},"zh":{"name":"脊椎干骺端发育不良， Kozlowski 型","definition":"科兹洛夫斯基型脊椎干骺端发育不良的特点是身材矮小（短躯干侏儒症）、脊柱侧凸、股骨干骺端异常（尤其在股骨颈和转子区）、髋内翻和广泛性扁椎骨。"},"tr":{"name":"Spondilometafizyal displazi, Kozlowski tipi"}},"xrefs":[{"source":"OMIM","code":"184252","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":"360868302"},{"source":"MONDO","code":"0008477","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535797","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265280","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3047","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":364820,"name":"TRPV4-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"TRPV4","name":"transient receptor potential cation channel subfamily V member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24830047[PMID]","hgnc":"18083","ensembl":"ENSG00000111199","omim":"605427","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-20","source":"28687525 [PMID]_24830047[PMID]_33774370[PMID]","terms":[{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003336","label":"Abnormal enchondral ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003170","label":"Abnormality of the acetabulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002867","label":"Abnormality of the ilium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001498","label":"Carpal bone hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002869","label":"Flared iliac wings","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003088","label":"Premature osteoarthritis","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:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001248","label":"Short tubular bones of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003177","label":"Squared iliac bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003907","label":"Abnormality of the humeral metaphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003059","label":"Abnormality of the radioulnar joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010228","label":"Absent epiphyses of the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004558","label":"Cervical platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030289","label":"Flattened femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003311","label":"Hypoplasia of the odontoid process","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030320","label":"Increased intervertebral space","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003121","label":"Limb joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000914","label":"Shield chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003185","label":"Short greater sciatic notch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008422","label":"Vertebral wedging","frequency":"Occasional (29-5%)","criteria":null}]}}