{"orpha":1506,"name":"Thin ribs-tubular bones-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Sharma-Kapoor-Ramji syndrome"],"definition":"An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1506/","orphanet_url":"https://www.orpha.net/en/disease/detail/1506","names":{"fr":{"name":"Syndrome de côtes fines-os tubulaires fins-dysmorphie","synonyms":["Syndrome de Sharma-Kapoor-Ramji"],"definition":"Dysplasie osseuse primaire rare et létale caractérisée par de fines côtes et des os longs fins, un palais ogival et une dysmorphie faciale à type de saillie des bosses frontales et d'oreilles d'implantation basse orientées vers l'arrière. Une cryptorchidie bilatérale peut être observée. Aucun cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"Dünne Rippen und Röhrenknochen-Dysmorphie-Syndrom","synonyms":["Sharma-Kapoor-Ramji-Syndrom"]},"es":{"name":"Síndrome de costillas delgadas-dismorfia-huesos tubulares","synonyms":["Síndrome de Sharma-Kapoor-Ramji"],"definition":"Es una displasia ósea primaria, extremadamente infrecuente y letal, caracterizada por costillas delgadas, huesos largos y delgados, paladar ojival y características faciales de frente prominente y orejas de baja implantación rotadas posteriormente. También se puede observar criptorquidia bilateral. No se han descrito más casos en la literatura desde 1990."},"it":{"name":"Sindrome da costole e ossa tubulari sottili e dismorfismi","synonyms":["Sindrome di Sharma-Kapoor-Ramji"],"definition":"La sindrome che associa le costole e le ossa tubolari sottili e i dismorfismi è una displasia scheletrica primitiva letale molto rara, caratterizzata dall'assottigliamento delle costole e delle ossa lunghe, palato ogivale e dismorfismi facciali (fronte bombata e orecchie a basso impianto ruotate posteriormente). Può associarsi a criptorchidismo bilaterale. Non sono stati descritti nuovi casi dopo il 1990."},"nl":{"name":"Dunne ribben - kokervormige botten - dysmorfie-syndroom","synonyms":["Syndroom van Sharma-Kapoor-Ramji"],"definition":"Een uiterst zeldzame, letale, primaire botdysplasie, gekarakteriseerd door dunne ribben, dunne pijpbeenderen, hoog gebogen verhemelte, en gelaatskenmerken als boller voorhoofd en laagstaande, naar achteren gedraaide oren. Bilaterale cryptorchidie wordt mogelijk ook waargenomen. Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de costelas finas-ossos tubulares-dismorfia","synonyms":["Síndrome Sharma-Kapoor-Ramji"]},"pl":{"name":"Zespół cienkich żeber, rurowatych kości i dysmorfii","synonyms":["Zespół Sharma, Kapoor i Ramji"],"definition":"*Zespół cienkich żeber, rurowatych kości i dysmorfii jest niezwykle rzadką, śmiertelną, pierwotną dysplazją kostną, która charakteryzuje się ścieńczeniem żeber i kości długich, wysokim podniebieniem oraz charakterystycznymi cechami twarzy, z wysokim czołem i nisko osadzonymi, zrotowanymi do tyłu uszami. Niekiedy występuje obustronne wnętrostwo. Od 1990 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Syndrom zahrnující tenká žebra, lamelární kosti a dysmorfismus","synonyms":["Sharma-Kapoor-Ramji syndrom"]},"uk":{"name":"Синдром дисморфізму тонких реберно-трубчастих кісток","synonyms":["Синдром Шарма-Капура-Рамджі"],"definition":"An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990."},"zh":{"name":"薄肋-管状骨-外貌畸形综合征","synonyms":["Sharma-Kapoor-Ramji综合征"]},"tr":{"name":"İnce kaburga-tübüler kemikler-dismorfizm sendromu","synonyms":["Sharma-Kapoor-Ramji sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.D","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015462","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537595","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931543","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2400886[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2400886[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib 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:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Very frequent (99-80%)","criteria":null}]}}