{"orpha":313855,"name":"FGFR2-related bent bone dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Perinatal lethal bent bone dysplasia"],"definition":"FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313855/","orphanet_url":"https://www.orpha.net/en/disease/detail/313855","names":{"fr":{"name":"Dysplasie osseuse avec incurvation des membres liée à FGFR2","synonyms":["Dysplasie osseuse avec incurvation des membres périnatale létale"],"definition":"Dysplasie osseuse primaire rare et létale, d'origine génétique, caractérisée par une dysmorphie craniofaciale (oreilles d'implantation basse orientées vers l'arrière, hypertélorisme, mégalophtalmie, étage moyen du visage aplati et hypoplasique, micrognathie), une hypominéralisation de la calvaria, une craniosynostose, une hypoplasie des clavicules et du pubis, ainsi qu'une incurvation des os longs (touchant particulièrement le fémur), due à des mutations germinales du gène <i>FGFR2</i>. Peuvent aussi être associés une éruption précoce de dents foetales, une ostéopénie, un hirsutisme, une clitoromégalie, une hyperplasie gingivale et une hépatosplénomégalie avec hématopoïèse extramédullaire."},"de":{"name":"FGFR2-abhängige Dysplasie mit gekrümmten Knochen","synonyms":["Dysplasie mit gekrümmten Knochen, letale perinatale Form"]},"es":{"name":"Displasia con huesos incurvados asociada al gen FGFR2","definition":"La displasia con huesos incurvados asociada a FGFR2 es una displasia ósea primaria, letal, genética y poco frecuente, caracterizada por rasgos craneofaciales dismórficos (orejas de implantación baja rotadas posteriormente, hipertelorismo, megaloftalmos, aplanamiento e hipoplasia mediofacial, micrognatia), hipomineralización craneal, craneosinostosis, pubis y clavículas hipoplásicos, y huesos largos incurvados (especialmente los fémures). Está causada por mutaciones germinales en el gen <i>FGFR2</i>. También se pueden asociar dientes fetales erupcionados prematuramente, osteopenia, hirsutismo, clitoromegalia, hiperplasia gingival y hepatoesplenomegalia con hematopoyesis extramedular."},"it":{"name":"Displasia con incurvamento delle ossa correlata a FGFR2","synonyms":["Displasia con incurvamento delle ossa letale perinatale","Displasia letale perinatale con incurvamento delle ossa"],"definition":"La displasia con incurvamento delle ossa correlata a FGFR2 è una displasia scheletrica primitiva rara e letale, di origine genetica, caratterizzata da dismorfismi craniofacciali (orecchie a basso impianto ruotate posteriormente, ipertelorismo, megaloftalmo, appiattimento e ipoplasia della porzione media del viso, micrognazia), ipomineralizzazione della volta cranica, craniosinostosi, ipoplasia delle clavicole e del pube, e incurvamento delle ossa lunghe, (soprattutto dei femori), causati da mutazioni nella linea germinale del gene FGFR2. Può associarsi ad eruzione prenatale dei denti, osteopenia, irsutismo, clitoridomegalia, iperplasia gengivale ed epatosplenomegalia con ematopoiesi extramidollare."},"nl":{"name":"FGFR2-gerelateerde gebogen botdysplasie","synonyms":["Perinatale letale gebogen botdysplasie"],"definition":"FGFR2-gerelateerde gebogen botdysplasie is een zeldzame, genetische, letale, primaire botdysplasie die gekarakteriseerd wordt door dysmorfe craniofaciale kenmerken (laagstaande en naar achteren gedraaide oren, hypertelorisme, macroftalmie, plat en hypoplastisch middengezicht, micrognathie), hypomineralisatie van het schedeldak, craniosynostose, hypoplastisch sleutelbeen en schaambeen, en gebogen pijpbeenderen (voornamelijk de dijbeenderen), veroorzaakt door kiembaanmutaties in het gen <i>FGFR2</i>. Premature eruptie van foetale tanden, osteopenie, hirsutisme, clitoromegalie, gingivale hyperplasie, en hepatosplenomegalie met extramedullaire hematopoëse kunnen ook geassocieerd zijn."},"pt":{"name":"Displasia de encurvamento ósseo FGFR2-relacionada","synonyms":["Displasia de encurvamento ósseo letal perinatal"]},"pl":{"name":"Dysplazja wygiętych kości związana z FGFR2","synonyms":["Prenatalna śmiertelna dysplazja wygiętych kości"],"definition":"*Dysplazja wygiętych kości związana z FGFR2 jest rzadką, genetycznie uwarunkowaną pierwotną dysplazją kości o śmiertelnym przebiegu, która charakteryzuje się dysmorficznymi cechami twarzoczaszki (nisko osadzone, zrotowane ku tyłowi uszy, hiperteloryzm, olbrzymie oczy, płaska i hipoplastyczna środkowa część twarzy, mikrognacja), hipomineralizacją sklepienia czaszki, przedwczesnym zarośnięciem szwów czaszkowych, hipoplastycznymi obojczykami i kością łonową oraz wygiętymi kośćmi długimi (szczególnie dotyczy to kości udowych). Spowodowana jest przez germinalne mutacje w genie FGFR2. Mogą również towarzyszyć: przedwcześnie wyrzynające się zęby u płodu, osteopenia, hirsutyzm, powiększenie łechtaczki, przerost dziąseł oraz powiększenie wątroby i śledziony z hematopoezą pozaszpikową."},"cs":{"name":"FGFR2-vázaná dysplázie s pokřivenými dlouhými kostmi","synonyms":["Perinatální letální dysplázie s pokřivenými dlouhými kostmi"]},"uk":{"name":"FGFR2-залежна дисплазія зігнутих кісток","synonyms":["Перинатальна летальна дисплазія зігнутих кісток"],"definition":"FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated."},"zh":{"name":"FGFR2基因相关性弯曲骨发育不良综合征","synonyms":["围产期致命性弯曲骨发育不良"],"definition":"FGFR2相关的弯曲骨发育不良是一种罕见的、遗传性的、致命的原发性骨发育不良，其特征是畸形的颅面特征（低位、耳后旋、眼距过宽、面中部扁平和发育不全、小颌畸形）、颅骨矿化不足、颅骨关节炎、锁骨和耻骨发育不全以及弯曲长骨（尤其涉及股骨），由FGFR2基因的种系突变引起。也可表现为胎齿早萌、骨量减少、多毛、阴蒂肿大、牙龈增生、肝脾肿大伴髓外积血。"},"tr":{"name":"FGFR2-ilişkili bükülmüş kemik displazisi","synonyms":["Perinatal letal bükülmüş kemik displazisi"]}},"xrefs":[{"source":"OMIM","code":"614592","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013815","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755261","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10965","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93439,"name":"Campomelic dysplasia and related disorders","classifications":[147,156,199]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR2","name":"fibroblast growth factor receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22387015[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"27240702[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27240702[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-18","source":"22387015[PMID]","terms":[{"hpo":"HP:0030313","label":"Abnormal periosteum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005474","label":"Decreased calvarial ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001978","label":"Extramedullary hematopoiesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003175","label":"Hypoplastic ischia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030042","label":"Incomplete ossification of pubis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011223","label":"Metopic depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004453","label":"Overfolding of the superior helices","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010455","label":"Steep acetabular roof","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}