{"orpha":370019,"name":"Spondylometaphyseal dysplasia, Czarny-Ratajczak type","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondylometaphyseal dysplasia, A4 type","url":"https://raremap.alftech.space/d/ORPHA-370019/","orphanet_url":"https://www.orpha.net/en/disease/detail/370019","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire type Czarny-Ratajczak"},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ Czarny-Ratajczak"},"es":{"name":"Displasia espondilometafisaria tipo Czarny-Ratajczak"},"it":{"name":"Displasia spondilometafisaria tipo Czarny-Ratajczak"},"nl":{"name":"Spondylometafysaire dysplasie, Czarny-Ratajczak-type"},"pt":{"name":"Displasia espondilometafisária, tipo Czarny-Ratajczak"},"pl":{"name":"Dysplazja kręgowo-nasadowa typu Czarny-Ratajczak"},"cs":{"name":"Spondyloepimetafyzární dysplázie, typ Czarny-Ratajczak"},"uk":{"name":"Спондилометафізарна дисплазія, тип Чарні-Ратайчака"},"zh":{"name":"Czarny-Ratajczak型脊柱-上肢-干骺端发育不良","definition":"脊柱干骺端发育不良Czarny-Ratajczak型是一种罕见的原发性骨发育不良疾病，其特征是身材矮小、四肢严重缩短、膝内翻畸形和关节肥大伴运动受限（髋关节受累尤其严重）。影像学表现为髋内翻，管状骨广泛性干骺端异常(包括干骺端呈杯状、磨损和张开)，股骨和前臂骨病变比掌骨和指骨更严重，椎体异常包括卵圆形椎体前矩形突起和严重的颈椎病。"},"tr":{"name":"Spondilometafizyal displazi, Czarny-Ratajczak tipi"}},"xrefs":[],"associations":[{"type":"Moved to","orpha":168555,"name":"Spondylometaphyseal dysplasia, A4 type"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}