{"orpha":246,"name":"Postaxial acrofacial dysostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acrofacial dysostosis, Genee-Wiedemann type","Mandibulofacial dysostosis with postaxial limb anomalies","Miller syndrome","POADS","Postaxial acrodysostosis"],"definition":"A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-246/","orphanet_url":"https://www.orpha.net/en/disease/detail/246","names":{"fr":{"name":"Dysostose acrofaciale post-axiale","synonyms":["Acrodysostose postaxiale","Dysostose acrofaciale type Genee-Wiedemann","Dysostose mandibulo-faciale avec anomalies post-axiales des extrémités","POADS","Syndrome de Miller"],"definition":"Dysostose acrofaciale rare caractérisée par une hypoplasie mandibulaire et malaire, de petites oreilles en forme de coupe, un ectropion des paupières inférieures et des déficits symétriques postaxiaux des membres avec absence du cinquième rayon digital, et une hypoplasie ulnaire."},"de":{"name":"Dysostose, akrofaziale postaxiale","synonyms":["Akrodysostose, postaxiale","Dysostose, akrofaziale, Typ Genee-Wiedemann","Mandibulofaziale Dysostose mit postaxialen Gliedmaßenanomalien","Miller-Syndrom","POADS"],"definition":"Die Postaxiale akrofaziale Dysostose (POADS) ist ein Subtyp der Akrofazialen Dysostosen. Sie ist gekennzeichnet durch Hypoplasie von Unterkiefer und Jochbein, kleine und becherförmige Ohren, Ektropion der Unterlider und symmetrische postaxiale Gliedmaßendefekte mit fehlendem fünften Fingerstrahl und Hypoplasie der Ulna"},"es":{"name":"Disostosis acrofacial postaxial","synonyms":["Acrodisostosis postaxial","Disostosis acrofacial tipo Genee-Wiedemann","Disostosis mandibulofacial con anomalías de las extremidades postaxiales","Síndrome de Miller"],"definition":"Es una disostosis acrofacial poco frecuente caracterizada por hipoplasia mandibular y malar, orejas pequeñas en forma de copa, ectropión del párpado inferior y malformaciones simétricas y postaxiales de las extremidades con ausencia del quinto radio de la mano e hipoplasia cubital."},"it":{"name":"Disostosi acrofacciale postassiale","synonyms":["Acrodisostosi postassiale","Disostosi acrofacciale, tipo Genee-Wiedmann","Disostosi manibolofacciale con anomalie postassiali degli arti","POADS","Sindrome di Miller"],"definition":"La disostosi acrofacciale postassiale (POADS) è una disostosi acrofacciale rara, caratterizzata da ipoplasia mandibolare e malare, orecchie piccole a coppa, ectropion della palpebra inferiore, difetti simmetrici postassiali degli arti, agenesia del quinto raggio delle dita e ipoplasia dell'ulna."},"nl":{"name":"Postaxiale acrofaciale dysostose","synonyms":["Acrofaciale dysostose, Genee-Wiedemann-type","Mandibulofaciale dysostose met postaxiale ledemaatanomalieën","POADS","Postaxiale acrodysostose","Syndroom van Miller"],"definition":"Een zeldzame acrofaciale dysostose, gekarakteriseerd door hypoplasie van onderkaak en jukbeen, kleine en komvormige oren, ectropion van onderste ooglid, en symmetrische postaxiale deficiënties van ledematen met afwezigheid van de vijfde stralen en hypoplasie van ulna."},"pt":{"name":"Disostose acrofacial pós-axial","synonyms":["Acrodisostose pós-axial","Síndrome Miller"]},"pl":{"name":"Pozaosiowa dyzostoza kończynowo-twarzowa","synonyms":["Dyzostoza kończynowo-twarzowa typu Genee i Wiedmanna","Dyzostoza żuchwowo-twarzowa z pozaosiowymi wadami kończyn","Pozaosiowa dyzostoza kończynowa","Zespół Millera"]},"cs":{"name":"Postaxiální akrofaciální dysostóza","synonyms":["POADS","Postaxiální akrodysostóza","Akrofaciální dysostóza, Geneeův-Wiedmannův typ","Mandibulofaciální dysostóza s postaxiálními anomáliemi končetin","Millerův syndrom","Akrofaciální dysostóza, Genee-Wiedmannův typ"]},"uk":{"name":"Постаксіальний акрофаціальний дизостоз","synonyms":["Акрофаціальний дизостоз, тип Гені-Відеманна","Мандибулофаціальний дизостоз з постаксіальними аномаліями кінцівок","Синдром Міллера","POADS","Постаксіальний акродизостоз"],"definition":"A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia."},"zh":{"name":"轴后面骨发育不全","synonyms":["颌面部发育不全伴轴后肢体异常"]},"tr":{"name":"Postaksiyel akrofasiyal disostoz","synonyms":["POADS","Miller sendromu","Postaksiyal akrodizostoz","Akrofasiyal dizostoz, Genee-Wiedmann tipi","Postaksiyal ekstremite anomalisi ile seyreden mandibulfasiyal dizostoz"]}},"xrefs":[{"source":"OMIM","code":"263750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"70602060"},{"source":"MONDO","code":"0009903","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537680","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265257","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8410","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]},{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98571,"name":"Secondary ectropion","classifications":[147,156,189]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":98566,"name":"Syndromic eyelid coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"DHODH","name":"dihydroorotate dehydrogenase (quinone)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19915526[PMID]","hgnc":"2867","ensembl":"ENSG00000102967","omim":"126064","loci":["16q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007651","label":"Ectropion of lower eyelids","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000370","label":"Abnormality of the middle ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}