{"orpha":168443,"name":"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. There have been no further description in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168443/","orphanet_url":"https://www.orpha.net/en/disease/detail/168443","names":{"fr":{"name":"Syndrome de dysplasie spondylo-métaphysaire-hypotrichose","definition":"Dysplasie osseuse primaire rare caractérisée par une hypotrichose congénitale associée à une petite taille avec un raccourcissement rhizomélique (plus prononcé dans les membres supérieurs que dans les membres inférieurs), une limitation de l'abduction de la hanche et un léger genu varum. Des signes radiologiques caractéristiques sont des métaphyses évasées et irrégulières, une ossification épiphysaire retardée et irrégulière et des corps vertébraux de forme de poire."},"de":{"name":"Spondyloepimetaphysäre Dysplasie-Hypotrichose-Syndrom","definition":"Eine seltene spondyloepiphysäre Dysplasie und spondyloepimetaphysäre Dysplasie, gekennzeichnet durch angeborene Hypotrichose in Verbindung mit rhizomeler Kleinwuchs (stärker ausgeprägt in den oberen Gliedmaßen als in den unteren), eingeschränkter Hüftabduktion und leichtem Genu varum. Ausgeprägte und unregelmäßige Metaphysen, verzögerte und unregelmäßige Epiphysenossifikation und birnenförmige Wirbelkörper sind charakteristische radiologische Befunde. Seit 1990 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de displasia espondiloepimetafisaria-hipotricosis","definition":"El síndrome de displasia espondiloepimetafisaria - hipotricosis, es una displasia ósea primaria poco frecuente, caracterizada por hipotricosis congénita asociada a talla baja rizomélica (más pronunciada en las extremidades superiores que en las inferiores), abducción limitada de la cadera y genu varo leve. Los hallazgos radiológicos característicos son metáfisis ensanchadas e irregulares y osificación epifisaria tardía e irregular, así como cuerpos vertebrales en forma de pera. No ha habido nuevos casos descritos en la literatura desde 1990."},"it":{"name":"Sindrome da displasia spondiloepimetafisaria ed ipotricosi","definition":"La sindrome che associa displasia la spondiloepimetafisaria e l'ipotricosi è una displasia scheletrica primitiva rara, caratterizzata da ipotricosi congenita, associata a bassa statura rizomelica (più marcata negli arti superiori), limitata adduzione dell'anca e lieve varismo del ginocchio. Di solito le radiografie evidenziano metafisi svasate ed irregolari, ritardo ed irregolarità dell'ossificazione delle epifisi e corpi vertebrali a forma di pera."},"nl":{"name":"Spondylo-epimetafysaire dysplasie - hypotrichose-syndroom","definition":"Een zeldzame spondylo-epifysaire dysplasie en spondylo-epimetafysaire dysplasie, gekenmerkt door congenitale hypotrichose geassocieerd met rhizomele kleine gestalte (meer uitgesproken in de bovenste ledematen dan in de onderste ledematen), beperkte heupabductie en milde genu varum (O-benen). Typische radiologische bevindingen zijn wijd uitlopende en onregelmatige metafysen, vertraagde en onregelmatige ossificatie van epifysen, en peervormige wervellichamen. Sinds 1990 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia espondiloepimetafisária - hipotricose"},"pl":{"name":"Zespół dysplazji kręgowo-nasadowo-przynasadowej i hipotrichozy","definition":"*Zespół dysplazji kręgowo-nasadowo-przynasadowej i hipotrichozy jest rzadką, pierwotną dysplazją kostną, która charakteryzuje się wrodzoną hipotrichozą, której towarzyszy niski wzrost z cechami rizomelii (skrócenie odcinków proksymalnych jest bardziej wyrażone w kończynach górnych niż dalszych), ograniczone odwodzenie w stawie biodrowym i łagodna szpotawość kolan. Charakterystyczne cechy radiologiczne to: szerokie i nieregularne przynasady, opóźnione i nieregularne kostnienie nasad oraz gruszkowaty kształt trzonów kręgów."},"cs":{"name":"Syndrom zahrnující spondyloepimetafyzární dysplázii a hypotrichózu"},"uk":{"name":"Синдром спондилоепіметафізарної дисплазії-гіпотрихозу","definition":"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings."},"zh":{"name":"脊柱干骺端发育不良-毛发减少综合征","definition":"脊椎干骺端发育不良-少毛症综合征是一种罕见的原发性骨发育不良疾病，其特征是先天性少毛症并伴有四肢近端短小(上肢比下肢更明显)、髋关节外展受限和轻度膝内翻。特征性放射学表现有干骺端松弛且不规则，骨骺骨化延迟且不规则以及梨形椎体。"},"tr":{"name":"Spondiloepimetafizyal displazi-hipotrikoz sendromu"}},"xrefs":[{"source":"OMIM","code":"183849","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":"869825501"},{"source":"MONDO","code":"0008469","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535783","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866728","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10101","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"2363424[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2363424[PMID]"}],"phenotypes":null}