{"orpha":2916,"name":"Postaxial polydactyly-dental and vertebral anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2916/","orphanet_url":"https://www.orpha.net/en/disease/detail/2916","names":{"fr":{"name":"Syndrome de polydactylie postaxiale-anomalies dentaires et vertébrales","definition":"Anomalie rare du développement embryonnaire caractérisée par une polydactylie postaxiale et par d'autres anomalies des mains et des pieds (à type de brachydactylie, d'orteils larges), une hypoplasie et une fusion des corps vertébraux, ainsi que des anomalies dentaires (fusion dentaire, macrodontie, hypodontie, racines courtes). Aucun cas n'a été décrit dans la littérature depuis 1977."},"de":{"name":"Polydaktylie, postaxiale - dentale und vertebrale Anomalien"},"es":{"name":"Síndrome de polidactilia postaxial-anomalías dentales y vertebrales","definition":"El síndrome de polidactilia postaxial - anomalías dentales y vertebrales, es un síndrome genético malformativo poco frecuente, caracterizado por polidactilia postaxial y otras anomalías de las manos y los pies (p. ej. braquidactilia, dedos anchos), hipoplasia y fusión de los cuerpos vertebrales, así como anomalías dentales (dientes fusionados, macrodoncia, hipodoncia, raíces cortas). No ha habido más casos descritos en la literatura desde 1977."},"it":{"name":"Sindrome da polidattilia postassiale ed anomalie dentali e vertebrali","definition":"La sindrome che associa polidattilia postassiale ed anomalie dei denti e delle vertebre è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da polidattilia postassiale associata ad altre anomalie delle mani e dei piedi (ad esempio brachidattilia ed alluci allargati), ipoplasia e fusione dei corpi vertebrali ed anomalie dei denti (fusione dei denti, macrodontia, ipodontia, radici corte). Non sono stati descritti nuovi casi dopo il 1977."},"nl":{"name":"Postaxiale polydactylie - dentale en vertebrale anomalieën-syndroom","definition":"Postaxiale polydactylie - dentale en vertebrale anomalieën-syndroom is een zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door postaxiale polydactylie en andere afwijkingen van de handen en voeten (e.g. brachydactylie, brede tenen), hypoplasie en fusie van de wervellichamen, en dentale afwijkingen (gefuseerde tanden, macrodontie, hypodontie, korte wortels). Sinds 1977 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de polidactilia pós-axial-anomalias dentárias e das vértebras"},"pl":{"name":"Polidaktylia pozaosiowa - anomalie zębów i kręgów","definition":"*Polidaktylia pozaosiowa - anomalie zębów i kręgów jest rzadką, genetycznie uwarunkowaną wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się pozaosiową polidaktylią i innymi nieprawidłowościami dłoni i stóp (np. brachydaktylia - skrócenie palców, szerokie palce u stóp), niedorozwojem i zrośnięciem trzonów kręgowych, a także nieprawidłowościami zębów (zrośnięcie zębów, makrodoncja, hipodoncja, krótkie korzenie). Od 1977 roku w literaturze nie było nowych opisów."},"cs":{"name":"Syndrom zahrnující postaxiální polydaktylii a anomálie zubů a obratlů"},"uk":{"name":"Синдром постаксіальної полідактилії - зубощелепні та хребетні аномалії","definition":"Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977."},"zh":{"name":"轴后性多指-牙齿脊柱畸形综合征"},"tr":{"name":"Postaksiyal polidaktili-dental ve vertebral anomaliler sendromu"}},"xrefs":[{"source":"OMIM","code":"263540","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009895","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750750","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"187745[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_187745[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008479","label":"Hypoplastic vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005988","label":"Congenital muscular torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100672","label":"Vaginal hernia","frequency":"Occasional (29-5%)","criteria":null}]}}