{"orpha":958,"name":"Acro-renal-mandibular syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Split hand/split foot-mandibular hypoplasia syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-958/","orphanet_url":"https://www.orpha.net/en/disease/detail/958","names":{"fr":{"name":"Syndrome acrorénomandibulaire","synonyms":["Syndrome de mains et pieds fendus-hypoplasie mandibulaire"],"definition":"Anomalie congénitale multiple rare caractérisée par des déformations des membres et des anomalies rénales dont malformation des mains et pieds fendus, agénésie rénale, reins polykystiques, anomalies utérines et hypoplasie mandibulaire sévère. Le mode de transmission retenu est autosomique récessif."},"de":{"name":"Akro-reno-mandibuläres Syndrom","synonyms":["Spalthand/Spaltfuß - Hypoplasie, mandibuläre"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das durch Extremitätenfehlbildungen und Nierenanomalien gekennzeichnet ist, darunter gespaltene Hände und Füße, Nierenagenesie, polyzystische Nieren, Uterusanomalien und schwere Unterkieferhypoplasie. Es wird ein autosomal-rezessiver Vererbungsmodus vermutet."},"es":{"name":"Síndrome acro-reno-mandibular","definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por anomalías de las extremidades y renales, que incluyen la malformación ''mano partida - pie partido'', agenesia renal, riñones poliquísticos, anomalías uterinas y grave hipoplasia mandibular. Se ha sugerido un patrón de herencia autosómico recesivo."},"it":{"name":"Sindrome acro-reno-mandibolare","synonyms":["Schisi delle mani e dei piedi - ipoplasia mandibolare"],"definition":"La sindrome acro-reno-mandibolare è una malattia molto rara da anomalie congenite multiple, caratterizzata da anomalie degli arti e dei reni che comprendono la malformazione a chela delle mani e dei piedi, l'agenesia renale, il rene policistico, le anomalie dell'utero e l'ipoplasia mandibolare grave. È stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"Acro-renaal-mandibulair syndroom","synonyms":["Gespleten hand/gespleten voet - mandibulaire hypoplasie-syndroom"],"definition":"Een zeldzaam syndroom met meervoudige congenitale anomalieën, gekenmerkt door deficiënties van ledematen en anomalieën van nier, waaronder gespleten hand-gespleten voet malformatie, agenesie van nier, polycystische nieren, anomalieën van uterus, en ernstige mandibulaire hypoplasie. Overerving gebeurt vermoedelijk autosomaal recessief."},"pt":{"name":"Síndrome acro-reno-mandibular","synonyms":["Ectrodactilia de mão e pés-hipoplasia mandibular"]},"pl":{"name":"Zespół kończynowo-nerkowo-żuchwowy","synonyms":["Rozszczep dłoni/rozszczep stopy - hipoplazja żuchwy"],"definition":"Rzadki zespół mnogich wad wrodzonych charakteryzujący się wadami ubytkowymi kończyn oraz wadami nerek, które obejmują malformację stopy typu „rozszczepiona dłoń”, agenezję nerek, nerki wielotorbielowate, wady macicy oraz ciężką hipoplazję żuchwy. Sugerowano autosomalny recesywny sposób dziedziczenia."},"cs":{"name":"Akrorenomandibulární syndrom","synonyms":["Syndrom zahrnující rozštěpenou ruku/nohu a mandibulární hypoplázii"]},"uk":{"name":"Акро-нирково-щелепний синдром","synonyms":["Синдром гіпоплазії нижньої щелепи з розщепленою кистю/розщепленою стопою"],"definition":"A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested."},"zh":{"name":"肢端-肾-下颌综合征","synonyms":["裂手/裂脚-下颌发育不全综合征"]},"tr":{"name":"Akro-renal-mandibular sendromu","synonyms":["Ayrık el/ayrık ayak-mandibular hipoplazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"200980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"879242648"},{"source":"MONDO","code":"0008707","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535665","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860166","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"25075450[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25075450[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"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:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006381","label":"Rudimentary fibula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006426","label":"Rudimentary to absent tibiae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003762","label":"Uterus didelphys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010295","label":"Aplasia/Hypoplasia of the tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003316","label":"Butterfly vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null}]}}