{"orpha":974,"name":"Adams-Oliver syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AOS","Aplasia cutis congenita with distal limb anomalies","Aplasia cutis congenita with terminal transverse limb defects","Congenital scalp defects with distal limb anomalies","Congenital scalp defects with distal limb reduction anomalies"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the combination of congenital distal limb reduction and scalp defects, often accompanied by skull ossification defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-974/","orphanet_url":"https://www.orpha.net/en/disease/detail/974","names":{"fr":{"name":"Syndrome d'Adams-Oliver","synonyms":["Syndrome d'anomalie congénitale du cuir chevelu-anomalies distales des membres","Syndrome d'anomalie congénitale du cuir chevelu-réduction distale des membres"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par l'association d'une réduction congénitale de la partie distale des membres et d'anomalies du cuir chevelu, souvent accompagnées de défauts d'ossification du crâne."},"de":{"name":"Adams-Oliver-Syndrom","synonyms":["AOS","Aplasia cutis congenita mit Anomalien der distalen Gliedmaßen","Aplasia cutis congenita mit terminalen Querschnittsdefekten der Gliedmaßen","Kongenitaler Kopfhautdefekt mit Anomalien der distalen Gliedmaßen","Kongenitaler Kopfhautdefekt mit Reduktionsdefekt der distalen Gliedmaßen"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch die Kombination von kongenitalen distalen Gliedmaßenverkürzungen und Kopfhautdefekten gekennzeichnet ist, die häufig mit Schädelverknöcherungsdefekten einhergehen."},"es":{"name":"Síndrome de Adams-Oliver","synonyms":["Aplasia cutis congénita con anomalías de las extremidades distales","Aplasia cutis congénita con defectos terminales transversales de las extremidades","Defectos congénitos del cuero cabelludo con anomalías de reducción distal de las extremidades","Defectos congénitos del cuero cabelludo con anomalías distales de las extremidades"],"definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas poco frecuente caracterizado por la combinación de reducción congénita distal de las extremidades y alteraciones del cuero cabelludo, a menudo acompañados de defectos de osificación del cráneo."},"it":{"name":"Sindrome di Adams-Oliver","synonyms":["AOS","Aplasia cutanae congenita con anomalie della porzione distale degli arti","Aplasia cutanae congenita con difetti trasversali della porzione terminale degli arti","Difetti congeniti del cuoio capelluto con anomalie della porzione distale degli arti","Difetti congeniti del cuoio capelluto con anomalie in riduzione degli arti"]},"nl":{"name":"Syndroom van Adams-Oliver","synonyms":["AOS","Aplasia cutis congenita met distale ledemaatanomalieën","Aplasia cutis congenita met terminale transversale ledemaatdefecten","Congenitale defecten van scalp met distale ledemaatanomalieën","Congenitale defecten van scalp met lengtedefect van distale ledematen"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door de combinatie van congenitale lengtedefecten van distale ledematen en defecten van scalp, vaak vergezeld van defecten van ossificatie van schedel."},"pt":{"name":"Síndrome Adams-Oliver","synonyms":["AOS","Aplasia cutis congénita com anomalias distais dos membros","Aplasia cutis congénita com defeitos terminais transversos dos membros","Defeitos congénitos do escalpe com anomalias distais de redução dos membros","Defeitos congénitos do escalpe com anomalias distais dos membros"],"definition":"Síndrome dismórfica/anomalia congénita múltipla rara caracterizada pela combinação de redução congénita dos membros distais e defeitos do couro cabeludo, frequentemente acompanhada de defeitos de ossificação do crânio."},"pl":{"name":"Zespół Adamsa i Olivera","synonyms":["AOS","Wady kończyn, skalpu i czaszki","Wady wrodzone skalpu z wadami dystalnych odcinków kończyn","Wady wrodzone skalpu ze skróceniem dystalnych odcinków kończyn"]},"cs":{"name":"Adamsův-Oliverův syndrom","synonyms":["AOS","Vrozené defekty kůže hlavy s distálními anomáliemi končetin","Vrozené defekty kůže hlavy s distálně-redukčními anomáliemi končetin","Defekty končetin, kůže hlavy a lebky","Adams-Oliverův syndrom"]},"uk":{"name":"Синдром Адамса-Олівера","synonyms":["AOS","Вроджена аплазія шкіри з дистальними аномаліями кінцівок","Вроджена аплазія шкірного покриву з термінальними поперечними дефектами кінцівок","Вроджені вади розвитку волосистої частини голови з дистальними аномаліями кінцівок","Вроджені вади розвитку волосистої частини голови з аномаліями дистальної редукції кінцівок"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the combination of congenital distal limb reduction and scalp defects, often accompanied by skull ossification defects."},"zh":{"name":"Adams-Oliver综合征","synonyms":["先天性头皮缺损伴远端肢体残缺异常"]},"tr":{"name":"Adams-Oliver sendromu","synonyms":["AOS","Ekstremite, kafa derisi ve kafatası defektleri","Distal ekstremite anomalili doğumsal kafa derisi defektleri","Distal ekstremite küçültme anomalileri ile doğumsal kafa derisi defektleri"]}},"xrefs":[{"source":"OMIM","code":"100300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614219","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614814","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615297","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616028","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616589","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"745972142"},{"source":"MONDO","code":"0007034","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538225","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265268","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5739","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079369","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]},{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]},{"orpha":183481,"name":"Genetic mixed dermis disorder","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"ARHGAP31","name":"Rho GTPase activating protein 31","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"21565291[PMID]","hgnc":"29216","ensembl":"ENSG00000031081","omim":"610911","loci":["3q13.32-q13.33"]},{"symbol":"DLL4","name":"delta like canonical Notch ligand 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26299364[PMID]","hgnc":"2910","ensembl":"ENSG00000128917","omim":"605185","loci":["15q15.1"]},{"symbol":"DOCK6","name":"dedicator of cytokinesis 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21820096[PMID]","hgnc":"19189","ensembl":"ENSG00000130158","omim":"614194","loci":["19p13.2"]},{"symbol":"EOGT","name":"EGF domain specific O-linked N-acetylglucosamine transferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23522784[PMID]","hgnc":"28526","ensembl":"ENSG00000163378","omim":"614789","loci":["3p14.1"]},{"symbol":"NOTCH1","name":"notch receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25132448[PMID]","hgnc":"7881","ensembl":"ENSG00000148400","omim":"190198","loci":["9q34.3"]},{"symbol":"RBPJ","name":"recombination signal binding protein for immunoglobulin kappa J region","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22883147[PMID]","hgnc":"5724","ensembl":"ENSG00000168214","omim":"147183","loci":["4p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.44,"area":"Worldwide","status":"Validated","source":"35449659[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":398.0,"area":"Worldwide","status":"Validated","source":"28160419[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004050","label":"Absent hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010760","label":"Absent toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002132","label":"Porencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}