{"orpha":1803,"name":"Thoracomelic dysplasia","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Rivera-Perez-Salas syndrome","Thoracolimb dysplasia, Rivera type"],"definition":"A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1803/","orphanet_url":"https://www.orpha.net/en/disease/detail/1803","names":{"fr":{"name":"Dysplasie thoracomélique","synonyms":["Dysplasie du thorax et des membres type Rivera","Syndrome de Rivera-Perez-Salas"],"definition":"Dysplasie osseuse primaire rare caractérisée par un thorax en entonnoir, une petite taille disproportionnée, une hypoplasie du pelvis, des têtes radiales pouvant se luxer et une élongation de la partie distale du tibia. Aucun éperon osseux au niveau de l'acétabulum ni aucune épiphyse phalangienne en forme de cône ne sont présents, et les manifestations osseuses ont tendance à se normaliser avec l'âge. Aucun cas n'a été décrit dans la littérature depuis 1988."},"de":{"name":"Dysplasie, thorakomelische","synonyms":["Rivera-Perez-Salas-Syndrom","Thorax- und Gliedmaßendysplasie Typ Rivera"]},"es":{"name":"Displasia toracomélica","synonyms":["Displasia toracomélica tipo Rivera","Síndrome de Rivera-Perez-Salas"],"definition":"La displasia toracomélica es un trastorno de displasia ósea primaria muy poco frecuente que se caracteriza por tórax en forma de campana, talla baja desproporcionada, hipoplasia pélvica, subluxación de la cabeza radial y alargamiento del peroné distal. Los afectados no presentan espolones acetabulares ni epífisis de las falanges en forma de cono, y las manifestaciones óseas tienden a normalizarse con la edad. No ha habido más casos descritos en la literatura desde 1988."},"it":{"name":"Displasia toracomelica","synonyms":["Sindrome di Rivera-Perez-Salas"],"definition":"La displasia toracomelica è una displasia scheletrica primitiva molto rara, caratterizzata da torace a campana, bassa statura sproporzionata, ipoplasia del bacino, dislocazione delle teste del radio e allungamento della porzione distale dei peroni. Non sono presenti speroni acetabolari, né epifisi a cono. I segni scheletrici tendono a normalizzarsi con l'età. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Thoracomelische dysplasie","synonyms":["Dysplasie van thorax en ledematen, Rivera-type","Syndroom van Rivera-Perez-Salas"],"definition":"Thoracomelische dysplasie is een uiterst zeldzame primaire botdysplasie die gekarakteriseerd wordt door een klokvormige thorax, disproportioneel kleine gestalte, pelviene hypoplasie, verplaatsbare radiuskoppen en verlengde distale kuitbeenderen. Er zijn geen acetabulaire botuitlopers of falangeale kegelvormige epifysen aanwezig, en osseuze manifestaties tonen de neiging te normaliseren met het ouder worden. Sinds 1988 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia toracomélica","synonyms":["Displasia do tórax e membros, tipo Rivera","Síndrome Rivera-Perez-Salas"]},"pl":{"name":"Dysplazja piersiowo-kończynowa","synonyms":["Rivera-Perez-Salas syndrome"],"definition":"*Dysplazja piersiowo-kończynowa jest niezwykle rzadką, pierwotną dysplazją kostną, która, charakteryzuje się dzwonowatą klatką piersiową, nieproporcjonalnie niskim wzrostem, hipoplazją miednicy, skłonnością do zwichnięć głów kości promieniowych oraz wydłużeniem dystalnymi odcinków kości strzałkowych. Nie obserwuje się ostróg panewek biodrowych oraz nasad w kształcie stożka, a objawy kostne wraz z wiekiem wykazują tendencję do normalizacji. Od 1988 roku w literaturze nie ma nowych opisów.inf brsup inf brsup"},"cs":{"name":"Thorakomelická dysplázie","synonyms":["Riverův-Perezův-Salasův syndrom","Rivera-Perez-Salasův syndrom"]},"uk":{"name":"Торакомелічна дисплазія","synonyms":["Синдром Рівера-Переса-Саласа","Тораколімфатична дисплазія, тип Рівера"],"definition":"A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988."},"zh":{"name":"胸骨发育不良","synonyms":["胸肢畸形，Rivera型"]},"tr":{"name":"Torakomelik displazi","synonyms":["Rivera-Perez-Salas sendromu","Thoracolimb displazisi, Rivera tipi"]}},"xrefs":[{"source":"OMIM","code":"273740","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.BY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1284518024"},{"source":"MONDO","code":"0010116","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564773","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848863","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93426,"name":"Ciliopathies with major skeletal involvement","classifications":[147,156,199]},{"orpha":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3184141[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3184141[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","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:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null}]}}