{"orpha":1993,"name":"Pai syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome"],"definition":"A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1993/","orphanet_url":"https://www.orpha.net/en/disease/detail/1993","names":{"fr":{"name":"Syndrome de Pai","synonyms":["Syndrome de fente médiane de la lèvre supérieure-lipome du corps calleux-polypes cutanés médiane de la face"],"definition":"Dysplasie frontonasale rare caractérisée par une fente médiane supérieure, des polypes de la ligne médiane de la peau du visage, de la muqueuse nasale et des lipomes dans la région péricalleuse. Un hypertélorisme et des anomalies oculaires sont également observées, le développement neuropsychologique étant généralement normal."},"de":{"name":"Pai-Syndrom","synonyms":["Mediane Oberlippenspalte-Corpus-callosum-Lipom-kutane Gesichtspolypen der Mittellinie-Syndrom"],"definition":"Eine seltene frontonasale Dysplasie, die durch eine mediane Oberlippenspalte (MCL), Mittellinienpolypen der Gesichtshaut, Nasenschleimhaut und pericallosale Lipome gekennzeichnet ist. Hypertelorismus mit Augenanomalien werden ebenfalls beobachtet, im Allgemeinen mit normaler neuropsychologischer Entwicklung."},"es":{"name":"Síndrome de Pai","synonyms":["Síndrome de hendidura media del labio superior-lipoma del cuerpo calloso-pólipos cutáneos en la línea media"],"definition":"Es una displasia frontonasal poco frecuente caracterizada por una hendidura media del labio superior (HML), pólipos en la línea media de la piel de la cara y de la mucosa nasal, y lipomas de cuerpo calloso. También se observa hipertelorismo acompañado de anomalías oculares, con un desarrollo neuropsicológico por lo general normal."},"it":{"name":"Sindrome di Pai","synonyms":["Schisi mediana del labbro superiore - lipoma del corpo calloso - polipi cutanei"],"definition":"La sindrome di Pai (PS) è una displasia frontonasale rara, caratterizzata dalla schisi mediana del labbro superiore (MCL), polipi della linea mediana della cute del viso e della mucosa nasale, e lipomi attorno al corpo calloso. I pazienti possono presentare anche ipertelorismo con anomalie oculari, mentre in genere lo sviluppo neuropsicologico è normale."},"nl":{"name":"Syndroom van Pai","synonyms":["Mediaan gespleten bovenlip - lipoom van corpus callosum - faciale huidpoliepen op de middellijn-syndroom","Mediane schisis van bovenlip - lipoom van corpus callosum - faciale huidpoliepen op de middellijn-syndroom"],"definition":"Een zeldzame frontonasale dysplasie, gekarakteriseerd door mediaan gespleten bovenlip (MCL), poliepen van gezichtshuid en neusslijmvlies op de middellijn, en pericallosale lipomen. Hypertelorisme met oculaire anomalieën worden ook waargenomen, doorgaans met normale neuropsychologische ontwikkeling."},"pt":{"name":"Síndrome Pai","synonyms":["Síndrome de fenda mediana do lábio superior-lipoma do corpo caloso-pólipos cutâneos"]},"pl":{"name":"Zespół Pai","synonyms":["Pośrodkowy rozszczep górnej wargi - tłuszczak ciała modzelowatego - polipy skórne"]},"cs":{"name":"Paiův syndrom","synonyms":["Syndrom zahrnující rozštěp horního rtu, lipom corporis callosi a kožní polyp"]},"uk":{"name":"Синдром Пая","synonyms":["Синдром серединної розщілини верхньої губи - ліпоми мозолистого тіла - шкірних поліпів середньої лінії обличчя"],"definition":"A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development."},"zh":{"name":"Pai综合征","synonyms":["上唇人中区裂-胼胝体发育不良-面中线部位皮肤性息肉综合征"]},"tr":{"name":"Pai sendromu","synonyms":["Üst dudağın medyan yarığı-korpus kallozum lipomu-orta hat fasiyal kutanöz polip sendromu"]}},"xrefs":[{"source":"OMIM","code":"155145","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1236130516"},{"source":"MONDO","code":"0007956","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536135","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835087","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3439","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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":67.0,"area":"Worldwide","status":"Validated","source":"30195458[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30195458[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006866","label":"Midline central nervous system lipomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100582","label":"Nasal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004122","label":"Midline defect of the nose","frequency":"Occasional (29-5%)","criteria":null}]}}