{"orpha":93351,"name":"Spondyloepimetaphyseal dysplasia, Irapa type","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["SEMD, Irapa type"],"definition":"A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. There have been no further description in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93351/","orphanet_url":"https://www.orpha.net/en/disease/detail/93351","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type Irapa","synonyms":["SEMD, type Irapa"],"definition":"Dysplasie spondylo-épiphysaire et dysplasie spondylo-épimétaphysaire rare caractérisée par une petite taille disproportionnée associée à un tronc court, un pectus carinatum, des bras courts, des mains courtes et larges, des métatarsiens courts, des pieds plats et larges, une coxa vara, un genu valgum, une arthrose et des anomalies de la marche d'intensité modérée à sévère. Aucun nouveau cas n'a été décrit dans la littérature depuis 1981."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ Irapa","synonyms":["SEMD Typ Irapa"],"definition":"Eine seltene spondyloepiphysäre Dysplasie und spondyloepimetaphysäre Dysplasie, gekennzeichnet durch einen unverhältnismäßig kurzen Rumpf bei Kleinwuchs, Pectus carinatum, kurze Arme, kurze und breite Hände, kurze Mittelfußknochen, flache und breite Füße, Coxa vara, Genu valgum, Osteoarthritis, Arthrose und mittelschwere bis schwere Gangbeeinträchtigungen. Seit 1981 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia espondiloepimetafisaria tipo Irapa","synonyms":["SEMD tipo Irapa"],"definition":"Es una displasia espondiloepifisaria y espondiloepimetafisaria poco frecuente caracterizada por talla baja desproporcionada con tronco corto, pectus carinatum, acortamiento de los brazos, manos cortas y anchas, metatarsianos cortos, pies planos y anchos, coxa vara, genu valgo, osteoartritis, artrosis y alteración de la marcha de moderada a grave. No se han descrito más casos en la literatura desde 1981."},"it":{"name":"Displasia spondiloepimetafisaria, tipo Irapa","synonyms":["SEMD, tipo Irapa"]},"nl":{"name":"Spondylo-epimetafysaire dysplasie, Irapa-type","synonyms":["SEMD, Irapa-type"],"definition":"Een zeldzame spondylo-epifysaire dysplasie en spondylo-epimetafysaire dysplasie, gekenmerkt door disproportioneel kleine gestalte met korte romp, pectus carinatum (kippenborst), korte armen, korte en brede handen, korte metatarsalen, platte en brede voeten, coxa vara, genu valgum (X-benen), osteoartritis, artrose, en matige tot ernstige gangstoornis. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia espondilometafisária, tipo Irapa","definition":"A displasia espondiloepimetafisária, tipo Irapa é caracterizada por baixa estatura desproporcionada com tronco curto, pectus carinatum, braços curtos, mãos curtas e largas, metatarsos curtos, pés planos e largos, coxa vara, joelho valgo, osteoartrite, artrose e compromisso moderado a grave da marcha."},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa typu Irapa","synonyms":["SEMD typu Irapa","SEMD, typ Irapa"]},"cs":{"name":"Spondyloepimetafyzární dysplázie, typ Irapa","synonyms":["SEMD, typ Irapa"]},"uk":{"name":"Спондилоепіметафізарна дисплазія, тип Ірапа","synonyms":["SEMD, тип Irapa"],"definition":"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment."},"zh":{"name":"脊椎干骺端发育不良，Irapa型","synonyms":["SEMD，Irapa型"],"definition":"Irapa型脊椎骨骺-干骺端发育不良的特征是不成比例的短躯干、隆胸、短臂、短而宽的手、短的跖骨、平而宽的脚、髋内翻、膝外翻、骨关节炎、关节病和中重度步态障碍。"},"tr":{"name":"Spondiloepimetafizyal displazi, Irapa tipi","synonyms":["SEMD, Irapa tipi"]}},"xrefs":[{"source":"OMIM","code":"271650","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":"1355637988"},{"source":"MONDO","code":"0010076","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562958","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432213","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":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6772027[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"6772027[PMID]","terms":[{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001169","label":"Broad palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002651","label":"Spondyloepimetaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008839","label":"Hypoplastic pelvis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001191","label":"Abnormal carpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null}]}}