{"orpha":1521,"name":"Craniofrontonasal dysplasia-Poland anomaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Webster-Deming syndrome"],"definition":"A rare frontonasal dysplasia characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1521/","orphanet_url":"https://www.orpha.net/en/disease/detail/1521","names":{"fr":{"name":"Syndrome de dysplasie cranio-fronto-nasale-anomalie de Poland","synonyms":["Syndrome de Webster-Deming"],"definition":"Dysplasie frontonasale rare caractérisée par une craniosynostose, un syndrome de Poland, une dysplasie cranio-fronto-nasale et des anomalies des organes génitaux et des seins. Aucun cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Kraniofrononasale Dysplasie-Poland-Anomalie-Syndrom","definition":"Eine seltene frontonasale Dysplasie, die durch Kraniosynostose, Poland-Anomalie, kranio-fronto-nasale Dysplasie sowie Genital- und Brustanomalien gekennzeichnet ist. Seit 1994 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de displasia craneofrontonasal-anomalía de Poland","synonyms":["Síndrome de Webster-Deming"],"definition":"Es una displasia frontonasal poco frecuente caracterizada por craneosinostosis, anomalía de Poland, displasia craneofrontonasal y anomalías genitales y mamarias. No se han descrito más casos en la literatura desde 1994."},"it":{"name":"Displasia cranio-fronto-nasale - anomalia di Poland","synonyms":["Sindrome di Webster-Deming"]},"nl":{"name":"Craniofrontonasale dysplasie - Poland-anomalie - syndroom","synonyms":["Syndroom van Webster-Deming"],"definition":"Een zeldzame frontonasale dysplasie, gekenmerkt door craniosynostose, Poland-anomalie, craniofrontonasale dysplasie, en anomalieën van geslachtsorgaan en borst. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de displasia cranio-fronto-nasal-anomalia de Poland","synonyms":["Síndrome Webster-Deming"],"definition":"Displasia frontonasal rara caracterizada por craniossinostose, anomalia Poland, displasia craniofronto-nasal e anomalias genitais e mamárias. Não existem descrições adicionais na literatura desde 1994."},"pl":{"name":"Dysplazja czaszkowo-czołowo-nosowa - anomalia Polanda","synonyms":["Zespół Webstera i Deminga"],"definition":"Rzadka dysplazja czołowo-nosowa, która charakteryzuje się kraniosynostozą, anomalią Polanda, dysplazją czaszkowo-czołowo-nosową oraz wadami narządów płciowych i piersi. Od 1994 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující kraniofrontonazální dysplázii a Polandovu anomálii","synonyms":["Websterův-Demingův syndrom","Webster-Demingův syndrom"]},"uk":{"name":"Краніофронтоназальна дисплазія - синдром аномалії Поланда","synonyms":["Синдром Вебстера-Демінга"],"definition":"A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies."},"zh":{"name":"颅额鼻发育不良-波兰异常综合征","synonyms":["Webster-Deming综合征"]},"tr":{"name":"Kraniofrontonazal displazi-Polonya anomali sendromu","synonyms":["Webster-Deming sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015464","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303859","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]},{"orpha":180193,"name":"Syndromic breast hypoplasia/aplasia","classifications":[205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2225532[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2225532[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-08-20","source":"9240748[PMID]_7747768[PMID]_2225532[PMID]","terms":[{"hpo":"HP:0009116","label":"Aplasia/Hypoplasia involving bones of the skull","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004112","label":"Midline nasal groove","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012243","label":"Abnormal reproductive system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001464","label":"Aplasia/Hypoplasia involving the shoulder musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009930","label":"Asymmetry of the nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000136","label":"Bifid uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000200","label":"Short lingual frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006008","label":"Unilateral brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011959","label":"Unilateral hypoplasia of pectoralis major muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030867","label":"Vertical orbital dystopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null}]}}