{"orpha":2166,"name":"Holoprosencephaly-postaxial polydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudo-trisomy 13 syndrome"],"definition":"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2166/","orphanet_url":"https://www.orpha.net/en/disease/detail/2166","names":{"fr":{"name":"Syndrome d'holoprosencéphalie-polydactylie post-axiale","synonyms":["Syndrome pseudo-trisomie 13"],"definition":"Le syndrome Holoprosencéplalie-polydactylie post-axiale associe, chez des nouveau-nés à caryotype normal, les signes majeurs de la trisomie 13 : holoprosencéphalie, dysmorphie faciale sévère, polydactylie post-axiale et nombreuses malformations viscérales."},"de":{"name":"Holoprosenzephalie - postaxiale Polydaktylie","synonyms":["Pseudotrisomie 13-Syndrom"],"definition":"Das Holoprosenzephalie - postaxiale Polydaktylie-Syndrom vereint bei chromosomal normalen Neugeborenen Holoprosenzephalie, schwere faziale Dysmorphien, postaxiale Polydaktylie und andere angeborene Fehlbildungen, die an Trisomie 13 (s. dort) denken lassen."},"es":{"name":"Síndrome de holoprosencefalia-polidactilia postaxial","synonyms":["Síndrome de pseudo-trisomía 13"],"definition":"El síndrome de holoprosencefalia-polidactilia post axial asocia, en neonatos cromosómicamente normales, holoprosencefalia, dimorfismo facial grave, polidactilia post axial y otras malformaciones congénitas, que sugieren una trosomía 13 (ver este término)."},"it":{"name":"Oloprosencefalia - polidattilia postassiale","synonyms":["Sindrome da pseudotrisomia 13"]},"nl":{"name":"Holoprosencefalie - postaxiale polydactylie-syndroom","synonyms":["Pseudotrisomie 13-syndroom"],"definition":"Een syndroom dat in chromosomaal normale neonaten holoprosencefalie, ernstige faciale dysmorfie, postaxiale polydactylie en andere congenitale afwijkingen associeert, gelijkend op trisomie 13."},"pt":{"name":"Síndrome de holoprosencefalia-polidactilia pós-axial","synonyms":["Síndrome Young-Maders","Síndrome de pseudo-trissomia 13"],"definition":"A síndrome holoprosencefalia-polidactilia pós-axial associa, em recém-nascidos cromossomicamente normais, holoprosencefalia, dismorfismo facial grave, polidactilia pós-axial e outras anomalias congénitas, sugestivas de trissomia 13 (ver este termo)."},"pl":{"name":"Holoprozencefalia - polidaktylia zaosiowa","synonyms":["Zespół rzekomej trisomii 13"]},"cs":{"name":"Syndrom zahrnující holoprosencefalii a postaxiální polydaktylii","synonyms":["Pseudotrizomie chromozomu 13"]},"uk":{"name":"Синдром голопрозенцефально-постаксіальної полідактилії","synonyms":["Синдром псевдотрисомії 13"],"definition":"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)."},"zh":{"name":"前脑无裂畸形-轴后性多指（趾）综合征","synonyms":["假性13三体综合征"]},"tr":{"name":"Holoprosensefali-postaksiyal polidaktili sendromu","synonyms":["Psödo-trizomi 13 sendromu"]}},"xrefs":[{"source":"OMIM","code":"264480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009921","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535829","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849649","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"344","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010650","label":"Hypoplasia of the premaxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100596","label":"Absent nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009914","label":"Cyclopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}