{"orpha":83,"name":"Antley-Bixler syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83/","orphanet_url":"https://www.orpha.net/en/disease/detail/83","names":{"fr":{"name":"Syndrome d'Antley-Bixler","definition":"Craniosynostose syndromique rare caractérisée par une craniosynostose avec hypoplasie de la partie médiane du visage, une synostose radiohumérale, une incurvation fémorale et des contractures articulaires."},"de":{"name":"Antley-Bixler-Syndrom","definition":"Eine seltene syndromale Kraniosynostose in Verbindung mit Mittelgesichtshypoplasie, radiohumeraler Synostose, Femurverkrümmung und Gelenkkontrakturen."},"es":{"name":"Síndrome de Antley-Bixler","definition":"Es una craneosinostosis sindrómica poco frecuente caracterizada por craneosinostosis con hipoplasia del tercio mediofacial, sinostosis radiohumeral, incurvación femoral y contracturas articulares."},"it":{"name":"Sindrome di Antley-Bixler","definition":"La sindrome di Antley-Bixler (ABS) è una craniosinostosi sindromica rara con ipoplasia medio-facciale, sinostosi del radio e dell'omero, incurvamento del femore e contratture articolari."},"nl":{"name":"Syndroom van Antley-Bixler","definition":"Een zeldzame craniosynostose, gekenmerkt door craniosynostose met hypoplasie van middengezicht, radiohumerale synostose, kromstand van dijbeen, en gewrichtscontracturen."},"pt":{"name":"Síndrome Antley-Bixler"},"pl":{"name":"Zespół Antleya i Bixlera"},"cs":{"name":"Antleyho-Bixlerův syndrom","synonyms":["Antley-Bixlerův syndrom"]},"uk":{"name":"Синдром Ентлі-Бікслера","definition":"A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures."},"zh":{"name":"Antley-Bixler综合征"},"tr":{"name":"Antley-Bixler sendromu"}},"xrefs":[{"source":"OMIM","code":"207410","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2027710139"},{"source":"MONDO","code":"0008803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5234850","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5826","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083864","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[{"orpha":63269,"name":"Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis","type":"Clinical subtype"},{"orpha":596008,"name":"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"POR","name":"cytochrome p450 oxidoreductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15483095[PMID]","hgnc":"9208","ensembl":"ENSG00000127948","omim":"124015","loci":["7q11.23"],"via":{"orpha":63269,"name":"Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis"}},{"symbol":"FGFR2","name":"fibroblast growth factor receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301592[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"],"via":{"orpha":596008,"name":"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"[EXPERT]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003070","label":"Elbow ankylosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003275","label":"Narrow pelvis bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null}]}}