{"orpha":448267,"name":"Regressive spondylometaphyseal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-448267/","orphanet_url":"https://www.orpha.net/en/disease/detail/448267","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire régressive","definition":"Dysplasie osseuse primaire rare caractérisée par une petite taille de forme légère, un raccourcissement rhizomélique des bras et des jambes, une incurvation des os longs avec des métaphyses élargies et irrégulières, une cyphose thoracolombaire et un raccourcissement des métacarpiens. Il est typique de constater une nette amélioration des anomalies squelettiques à la radiographie. L'anomalie de Pelger-Huet (neutrophiles avec noyaux bilobés prenant la forme d'haltères) est une caractéristique hématologique de la maladie."},"de":{"name":"Dysplasie, spondylometaphysäre, rezessive"},"es":{"name":"Displasia espondilometafisaria regresiva","definition":"Es una displasia ósea primaria poco frecuente caracterizada por talla baja leve, acortamiento rizomélico de las extremidades, arqueamiento de los huesos largos con metáfisis ensanchadas e irregulares, cifosis toracolumbar y acortamiento metacarpiano. Por lo general, se experimenta una notable mejora de las características esqueléticas radiológicas. Un rasgo hematológico característico de esta enfermedad es la anomalía de Pelger-Huet (es decir, neutrófilos con núcleos bilobulados en forma de mancuerna)."},"it":{"name":"Displasia spondilometafisaria regressiva","definition":"La displasia spondilometafisaria regressiva è una displasia scheletrica primitiva rara, caratterizzata da statura moderatamente bassa, accorciamento rizomelico delle braccia e delle gambe, incurvamento delle ossa lunghe con metafisi allargate e irregolari, cifosi toracolombare e accorciamento dei metacarpi. Di solito le radiografie evidenziano nel tempo un marcato miglioramento dei segni clinici scheletrici. L'anomalia di Pelger-Huet (neutrofili con nuclei bilobati a forma di manubrio) è un segno ematologico caratteristico della malattia."},"nl":{"name":"Regressieve spondylometafysaire dysplasie","definition":"Regressieve spondylometafysaire dysplasie is een zeldzame, primaire botdysplasie die gekarakteriseerd wordt door mild kleine gestalte, rhizomele verkorting van de armen en benen, buiging van pijpbeenderen met verbrede en onregelmatige metafysen, thoracolumbale kyfose, en verkorting van metacarpalen. Een aanzienlijke verbetering van de radiologische kenmerken van het skelet is typisch. Anomalie van Pelger-Huet (i.e. haltervormige tweelobbige kernen van neutrofielen) is een typisch hematologisch kenmerk van deze ziekte."},"pt":{"name":"Displasia espondilometafisária regressiva"},"pl":{"name":"Regresywna dysplazja kręgowo-przynasadowa"},"cs":{"name":"Regresivní spondylometafyzární dysplázie"},"uk":{"name":"Регресивна спондилометафізарна дисплазія","definition":"A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease."},"zh":{"name":"退行性脊椎干骺端结构不良","definition":"退行性脊柱干骺端发育不良是一种罕见的原发性骨发育不良，其特征为轻度身材矮小，臂和腿的根部缩短，长骨弯曲，长谷干骺端不规则增宽、胸腰椎后凸畸形和掌骨缩短。放射检查的骨骼表型较明显。 Pelger-Huet异常（即中性粒细胞呈哑铃状双叶核）是该疾病的特征性血液学特征。"},"tr":{"name":"Regresif spondilometafizeal displazi"}},"xrefs":[{"source":"OMIM","code":"618019","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":"attributed","validated":true},{"source":"MONDO","code":"0018663","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4747922","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]}],"children":[],"genes":[{"symbol":"LBR","name":"lamin B receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25348816[PMID]_23824842[PMID]","hgnc":"6518","ensembl":"ENSG00000143815","omim":"600024","loci":["1q42.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25348816[PMID]_23824842[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25348816[PMID]_23824842[PMID]"}],"phenotypes":null}