{"orpha":1003,"name":"Scalp defects-postaxial polydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1003/","orphanet_url":"https://www.orpha.net/en/disease/detail/1003","names":{"fr":{"name":"Syndrome d'alopécie circonscrite-polydactylie","definition":"Syndrome rare avec anomalie des membres comme manifestation majeure caractérisé par des anomalies congénitales du cuir chevelu et une polydactylie postaxiale de type A. Il existe une grande variabilité d'expression, certains patients ne présentant qu'une seule des manifestations typiques. Aucun cas n'a été décrit dans la littérature depuis 1985."},"de":{"name":"Kopfhautdefekte-postaxiale Polydaktylie-Syndrom","definition":"Ein seltenes Syndrom mit Fehlbildungen der Gliedmaßen als Hauptmerkmal, das durch kongenitale Kopfhautdefekte und postaxiale Polydaktylie Typ A gekennzeichnet ist. Es besteht eine große Variabilität in der Ausprägung, wobei einige Patienten nur eine der typischen Manifestationen aufweisen. Seit 1985 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de defectos del cuero cabelludo-polidactilia postaxial","definition":"Es un síndrome poco frecuente con malformaciones de las extremidades como rasgo principal, caracterizado por defectos congénitos del cuero cabelludo y polidactilia postaxial tipo A. La expresión es altamente variable, con algunos pacientes que muestran sólo una de las manifestaciones típicas. No ha habido más descripciones en la literatura desde 1985."},"it":{"name":"Sindrome difetti del cuoio capelluto-polidattilia postassiale","definition":"Si tratta di una malattia rara con malformazione degli arti, caratterizzata da difetti congeniti del cuoio capelluto e polidattilia postassiale tipo A. L'espressione è molto variabile, e alcuni pazienti presentano solo uno dei segni clinici caratteristici. Non sono stati descritti nuovi casi dopo il 1985."},"nl":{"name":"Defecten van scalp - postaxiale polydactylie-syndroom","definition":"Een zeldzaam syndroom met ledemaatmalformaties als belangrijk kenmerk, gekarakteriseerd door congenitale defecten van scalp en postaxiale polydactylie type A. De expressie vertoont grote variatie, en sommige patiënten vertonen slechts een van de typische manifestaties. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de defeitos no couro cabeludo-polidactilia pós-axial"},"pl":{"name":"Wady skóry głowy - polidaktylia pozaosiowa"},"cs":{"name":"Syndrom zahrnující defekty kůže hlavy a postaxiální polydaktylii"},"uk":{"name":"Cиндром дефекту шкіри голови - постаксіальної полідактилії","definition":"A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985."},"zh":{"name":"头皮缺损-轴后性多指（趾）综合征"},"tr":{"name":"Kafa derisi defektleri-postaksiyal polidaktili sendromu"}},"xrefs":[{"source":"OMIM","code":"181250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008403","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536622","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511971","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"241","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183481,"name":"Genetic mixed dermis disorder","classifications":[156]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4029956[PMID]_468253[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4029956[PMID]_468253[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005696","label":"Postaxial polydactyly type A","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null}]}}