{"orpha":1263,"name":"Boomerang dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1263/","orphanet_url":"https://www.orpha.net/en/disease/detail/1263","names":{"fr":{"name":"Dysplasie en boomerang","definition":"La dysplasie en boomerang est une dysplasie squelettique rare et létale caractérisée par un nanisme micromélique sévère, des luxations articulaires, des pieds bots, une dysmorphie faciale et un profil radiologique spécifique montrant un défaut des os longs tubulaires d'aspect dysplasique, avec une déformation en forme de boomerang."},"de":{"name":"Boomerang-Dysplasie"},"es":{"name":"Displasia en boomerang","definition":"Es una displasia esquelética letal poco frecuente caracterizada por enanismo grave de extremidades cortas, luxaciones articulares, pie zambo, facies distintiva y hallazgos radiológicos de huesos tubulares largos displásicos y poco osificados, con una incurvación en forma de boomerang."},"it":{"name":"Displasia, tipo boomerang"},"nl":{"name":"Boemerang-dysplasie","definition":"Boemerangdysplasie (BD) is een zeldzame letale skeletdysplasie gekenmerkt door ernstige dwerggroei met korte ledematen, gewrichtsdislocaties, klompvoeten, karakteristieke gelaatstrekken en diagnostische radiografische bevindingen van dysplastische en gebrekkige ossificatie van de lange pijpbeenderen."},"pt":{"name":"Displasia boomerang"},"pl":{"name":"Dysplazja Boomeranga"},"cs":{"name":"Bumerang dysplázie"},"uk":{"name":"Бумерангова дисплазія","definition":"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing."},"zh":{"name":"回飞镖样骨发育不全症"},"tr":{"name":"Boomerang displazisi"}},"xrefs":[{"source":"OMIM","code":"112310","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"423736259"},{"source":"MONDO","code":"0007208","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536573","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432201","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"933","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":156723,"name":"Piepkorn dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93425,"name":"Filamin-related bone disorder","classifications":[156]},{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FLNB","name":"filamin B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301736[PMID]_15994868[PMID]","hgnc":"3755","ensembl":"ENSG00000136068","omim":"603381","loci":["3p14.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"15994868[PMID]_22354125[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15994868[PMID]_22354125[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006492","label":"Aplasia/Hypoplasia of the fibula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100856","label":"Poorly ossified vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008890","label":"Severe short-limb dwarfism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Occasional (29-5%)","criteria":null}]}}