{"orpha":2730,"name":"Postaxial tetramelic oligodactyly","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2730/","orphanet_url":"https://www.orpha.net/en/disease/detail/2730","names":{"fr":{"name":"Oligodactylie post-axiale tétramélique","definition":"Anomalie congénitale des membres rare d'origine génétique qui se caractérise par une oligodactylie postaxiale isolée des quatre membres. Les patients présentent un modèle cohérent de malformation allant de l'absence complète des 5<sup>es</sup> métacarpiens, métatarsiens et phalanges à l'absence complète des 55<sup>es</sup> métacarpiens et métatarsiens, avec quelques restes de 5<sup>es</sup> phalanges distales. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Oligodaktylie, tetramelische postaxiale"},"es":{"name":"Oligodactilia postaxial tetramélica","definition":"Es un trastorno genético y poco frecuente por malformación congénita de las extremidades caracterizada por oligodactilia postaxial aislada en las cuatro extremidades. Los afectados presentan un patrón consistente de malformaciones que varía desde la ausencia completa de los 5º metacarpianos, metatarsianos y falanges hasta la ausencia completa de los 5º metacarpianos y metatarsianos, con alguna 5ª falange distal residual. No se han descrito más casos en la literatura desde 1993."},"it":{"name":"Oligodattilia postassiale - tetramelica","definition":"L'oligodattilia postassiale tetramelica è una malformazione congenita rara degli arti, di origine genetica, caratterizzata da oligodattilia postassiale isolata dei quattro arti. I pazienti presentano malformazioni ricorrenti, che vanno dall'agenesia del quinto metacarpo, del metatarso e delle falangi, fino all'agenesia del quinto metacarpo e metatarso con presenza di alcune falangi distali. Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Postaxiale tetramelische oligodactylie","definition":"Postaxiale tetramelische oligodactylie is een zeldzame, genetische, congenitale malformatie van de ledematen die gekarakteriseerd wordt door geïsoleerde, postaxiale oligodactylie in alle vier de ledematen. Patiënten vertonen een consistent patroon van misvorming, gaande van volledige afwezigheid van de 5de metacarpalen, metatarsalen en falangen tot volledige afwezigheid van de 5de metacarpalen en metatarsalen met wat resterende distale 5de falangen. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Oligodactilia pós-axial tetramélica"},"pl":{"name":"Zaosiowa oligodaktylia czterokończynowa","definition":"Zaosiowa oligodaktylia czterokończynowa jest rzadkim, genetycznie uwarunkowanym, wrodzonym zaburzeniem rozwojowym kończyn, które charakteryzuje się izolowaną, pozaosiową oligodaktylią dotyczącą wszystkich czterech kończyn. U pacjentów występuje stały zestaw wad rozwojowych, od całkowitego braku kości śródręcza, śródstopia i paliczków 5-ych palców do całkowitego braku śródręcza i śródstopia kości tych palców, z szczątkowymi pozostałościami dystalnych paliczków 5-ych palców. Od 1993 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Postaxiální tetramelická oligodaktylie"},"uk":{"name":"Постаксіальна тетрамелічна олігодактилія","definition":"Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993."},"zh":{"name":"轴后性四肢少指畸形"},"tr":{"name":"Eksenel tetramelik oligodaktili"}},"xrefs":[{"source":"OMIM","code":"176240","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008298","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867924","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4065","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"8100684[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8100684[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-06","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Very frequent (99-80%)","criteria":null}]}}