{"orpha":931,"name":"Isolated acheiropodia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated acheiropody"],"definition":"An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-931/","orphanet_url":"https://www.orpha.net/en/disease/detail/931","names":{"fr":{"name":"Acheiropodie isolée","definition":"Anomalie très rare du développement embryonnaire caractérisée par une amputation bilatérale, congénitale et complète des extrémités distales (amputation de l'épiphyse distale de l'humérus, de la partie distale de la diaphyse tibiale, aplasie du radius, du cubitus, du péroné) et aplasie des mains et des pieds (aplasie des os du carpe, du métacarpe, du tarse, du métatarse et des phalanges). Dans de rares cas, un os ectopique peut être présent à l'extrémité distale de l'humérus. Aucune autre manifestation clinique systémique n'a été rapportée. La maladie suit un schéma de transmission autosomique récessif."},"de":{"name":"Acheiropodie, isolierte"},"es":{"name":"Aqueiropodia aislada","definition":"Es un trastorno del desarrollo extremadamente infrecuente caracterizado por amputación bilateral, congénita y completa de las extremidades distales (amputación de la epífisis distal del húmero, porción distal de la diáfisis tibial, aplasia del radio, cúbito, peroné) y aplasia de manos y pies (aplasia de huesos del carpo, metacarpiano, tarso, metatarsiano y falange). En raras ocasiones, se puede encontrar formación de hueso ectópico en el extremo distal del húmero. No se han descrito otras manifestaciones sistémicas y el trastorno sigue un patrón de herencia autosómico recesivo."},"it":{"name":"Acheiropodia isolata"},"nl":{"name":"Geïsoleerde acheiropodie","synonyms":["Geïsoleerde acheiropodia"],"definition":"Een uiterst zeldzame ontwikkelingsstoornis, gekarakteriseerd door bilaterale, congenitale en volledige amputatie van distale ledematen (amputatie van distale epifyse van humerus, distaal deel van diafyse van tibia, aplasie van radius, ulna, fibula) en aplasie van handen en voeten (aplasie van carpalen, metacarpalen, tarsalen, metatarsalen en falangen). In zeldzame gevallen kan een ectopisch bot aangetroffen worden aan het distale uiteinde van de humerus. Er werden geen andere systemische manifestaties gerapporteerd, en de aandoening volgt een autosomaal recessief overervingspatroon."},"pt":{"name":"Aqueiropodia isolada","synonyms":["Aqueiropodismo isolado"]},"pl":{"name":"Acheiropodia","synonyms":["Izolowana acheiropodia"]},"cs":{"name":"Acheiropodie","synonyms":["Isolated acheiropody"]},"uk":{"name":"Ізольовані ахейроподії","synonyms":["Ізольована ахейроподія"],"definition":"An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance."},"zh":{"name":"无手足畸形","synonyms":["无手足畸形"]},"tr":{"name":"Akeiropodi","synonyms":["Akeiropodi"]}},"xrefs":[{"source":"OMIM","code":"200500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB9B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1093077598"},{"source":"MONDO","code":"0008700","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536014","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5924998","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"376","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498461,"name":"Non-syndromic terminal transverse limb defect","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"LMBR1","name":"limb development membrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11090342[PMID]","hgnc":"13243","ensembl":"ENSG00000105983","omim":"605522","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Brazil","status":"Validated","source":"1155460[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Brazil","status":"Validated","source":"1155460[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004050","label":"Absent hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003974","label":"Absent radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003982","label":"Absent ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002990","label":"Fibular aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009813","label":"Upper limb phocomelia","frequency":"Very frequent (99-80%)","criteria":null}]}}