{"orpha":2899,"name":"Brachyolmia-amelogenesis imperfecta syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Platyspondyly-amelogenesis imperfecta syndrome","Verloes-Bourguignon syndrome"],"definition":"An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2899/","orphanet_url":"https://www.orpha.net/en/disease/detail/2899","names":{"fr":{"name":"Syndrome de brachyolmie-amélogenèse imparfaite","synonyms":["Syndrome de Verloes-Bourguignon","Syndrome de platispondylie-amélogenèse imparfaite"],"definition":"Forme extrêmement rare de brachyolmie, caractérisée par une légère platyspondylie, des os iliaques larges, des cols du fémur allongés et déformés en coxa valga, une scoliose et une petite taille à tronc court associée à une amélogenèse imparfaite des dents primaires et des dents permanents."},"de":{"name":"Brachyolmie-Amelogenesis imperfecta-Syndrom","synonyms":["Platyspondylie - Amelogenesis imperfecta","Verloes-Bourguignon-Syndrom"]},"es":{"name":"Síndrome de braquiolmia-amelogénesis imperfecta","synonyms":["Platispondilia-amelogénesis imperfecta","Síndrome de Verloes-Bourguignon"],"definition":"Es una forma muy poco frecuente de braquiolmia caracterizada por leve platispondilia, ilion ancho, cuellos femorales alargados con coxa valga, escoliosis y talla baja por tronco corto, junto con amelogénesis imperfecta de la dentición tanto primaria como permanente."},"it":{"name":"Brachiolmia - amelogenesi imperfetta","synonyms":["Platispondilia - amelogenesi imperfetta","Sindrome di Verloes-Bourguignon"],"definition":"La brachiolmia autosomica recessiva associata ad amelogenesi imperfetta è una forma molto rara di brachiolmia (si veda questo termine), caratterizzata da platispondilia lieve, ilei larghi, collo del femore allungato, coxa valga, scoliosi e bassa statura con tronco corto associate ad amelogenesi imperfetta (si veda questo termine) dei denti decidui e permanenti."},"nl":{"name":"Brachyolmie - amelogenesis imperfecta-syndroom","synonyms":["Platyspondylie - amelogenesis imperfecta-syndroom","Syndroom van Verloes-Bourguignon"],"definition":"Een uiterst zeldzame vorm van brachyolmie, gekarakteriseerd door milde platyspondylie, brede darmbeenderen, langgerekte femurhalzen met coxa valga, scoliose, en kleine gestalte met korte romp, geassocieerd met amelogenesis imperfecta van zowel het melkgebit als het permanente gebit."},"pt":{"name":"Síndrome de braquiolmia-amelogénese imperfeita","synonyms":["Síndrome Verloes-Bourguignon","Síndrome de platispondilia-amelogénese imperfeita"]},"pl":{"name":"Brachyolmia - amelogenesis imperfecta","synonyms":["platyspondylia - amelogenesis imperfecta","Zespół Verloesa i Bourguignona"]},"cs":{"name":"Syndrom zahrnující brachyolmii a amelogenesis imperfecta","synonyms":["Syndrom zahrnující platyspondylii a amelogenesis imperfecta","Verloesův-Bourguignonův syndrom","Verloes-Bourguignonův syndrom"]},"uk":{"name":"Синдром брахіолмії - недосконалого амелогенезу","synonyms":["Синдром платиспондилії- недосконалого амелогенезу","Синдром Верлоеса-Бургіньйона"],"definition":"An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition."},"zh":{"name":"短躯干-釉质形成缺陷综合征","synonyms":["扁平椎-釉质形成不全综合征"]},"tr":{"name":"Brakiyolmi-amelogenezis imperfekta sendromu","synonyms":["Verloes-Bourguignon sendromu","Platispondili-amelogenezis imperfekta sendromu"]}},"xrefs":[{"source":"OMIM","code":"601216","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"792334455"},{"source":"MONDO","code":"0011018","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536538","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832594","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5478","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":1293,"name":"Brachyolmia","classifications":[147,156,199]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[{"symbol":"LTBP3","name":"latent transforming growth factor beta binding protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25669657[PMID]","hgnc":"6716","ensembl":"ENSG00000168056","omim":"602090","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"8721563[PMID]_19213025[PMID]_19344874[PMID]_25899461[PMID]_ 25669657[PMID]_26511208[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8721563[PMID]_19213025[PMID]_19344874[PMID]_25899461[PMID]_ 25669657[PMID]_26511208[PMID]_ORPHANET"}],"phenotypes":null}