{"orpha":583097,"name":"Congenital infiltrating lipomatosis of the face","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CIL-F","Facial infused lipomatosis","Fibroadipose infiltrating lipomatosis"],"definition":"A rare PIK3CA-related overgrowth syndrome characterized by congenital non-hereditary facial overgrowth due to post-zygotic activating mutations in the <i>PIK3CA</i> gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face, including hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Early eruption of the teeth is common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-583097/","orphanet_url":"https://www.orpha.net/en/disease/detail/583097","names":{"fr":{"name":"Lipomatose congénitale infiltrante de la face","synonyms":["Lipomatose infiltrante congénitale du visage"],"definition":"Syndrome rare d'hypercroissance associé à une mutation de <i>PIK3CA</i> caractérisé par une hypercroissance faciale congénitale non héréditaire due à des mutations post-zygotiques activatrices du gène <i>PIK3CA</i>. Il en résulte une hypertrophie unilatérale des structures des tissus mous et durs du côté affecté du visage, ainsi qu'une hypertrophie des os du visage, une macroglossie et une prolifération de cellules de la glande parotide. L'éruption précoce des dents est fréquente."},"de":{"name":"Kongenitale infiltrierende Lipomatose des Gesichts","synonyms":["CIL-F","Fazial infiltrierende Lipomatose","Lipomatose, fibroadipöse infiltrierende"],"definition":"Ein seltenes PIK3CA-assoziiertes Grosswuchssyndrom, das durch ein kongenitales, nicht erbliches Überwachstum des Gesichts aufgrund von postzygomatischen aktivierenden Mutationen im <i>PIK3CA</i>-Gen gekennzeichnet ist. Es ist einseitig und beinhaltet eine Hypertrophie sowohl der Weich- als auch der Hartgewebestrukturen auf der betroffenen Gesichtsseite, einschließlich Hypertrophie der Gesichtsknochen, Makroglossie und Proliferation der Ohrspeicheldrüse. Ein früher Zahndurchbruch ist häufig."},"es":{"name":"Lipomatosis infiltrante facial congénita","synonyms":["CIL-F","Lipomatosis infiltrante de la cara congénita","Lipomatosis infiltrante fibroadiposa","Lipomatosis infundida facial"],"definition":"Es un síndrome de sobrecrecimiento poco frecuente relacionado con PIK3CA caracterizado por sobrecrecimiento facial congénito no hereditario debido a mutaciones activadoras postcigóticas en el gen <i>PIK3CA</i>. Es unilateral y se manifiesta como hipertrofia de las estructuras de los tejidos blandos y duros del lado afectado de la cara, incluyendo hipertrofia de los huesos faciales, macroglosia y proliferación de la glándula parótida. La erupción temprana de los dientes es común."},"it":{"name":"Lipomatosi congenita infiltrante del viso","synonyms":["CIL-F","Lipomatosi facciale infiltrante","Lipomatosi fibroadiposa infiltrante"]},"nl":{"name":"Congenitale infiltrerende lipomatose van gelaat","synonyms":["CIL-F","Faciale infiltrerende lipomatose","Fibroadipeuze infiltrerende lipomatose"],"definition":"Een zeldzaam PIK3CA-gerelateerd overgroeisyndroom, gekenmerkt door congenitale niet-erfelijke overgroei van aangezicht door postzygotische activerende mutaties in het gen <i>PIK3CA</i>. Het is unilateraal en omvat hypertrofie van zowel zachte als harde weefselstructuren aan de aangetaste zijde van het aangezicht, waaronder hypertrofie van aangezichtsbeenderen, macroglossie, en proliferatie van oorspeekselklier. Vaak is er vroege eruptie van gebitselementen."},"pt":{"name":"Lipomatose infiltrativa congénita da face","definition":"Síndrome rara de crescimento excessivo relacionada com o PIK3CA, caracterizada por crescimento facial congénito não hereditário devido a mutações ativadoras pós-zigóticas no gene <i>PIK3CA</i>. É unilateral e envolve hipertrofia das estruturas dos tecidos moles e duros no lado afetado da face, incluindo hipertrofia dos ossos faciais, macroglossia e proliferação da glândula parótida. É comum a erupção precoce dos dentes."},"pl":{"name":"Wrodzona naciekająca tłuszczakowatość twarzy","synonyms":["CIL-F","Facial infused lipomatosis","Fibroadipose infiltrating lipomatosis"]},"cs":{"name":"Vrozená infiltrující lipomatóza obličeje","synonyms":["CIL-F","Facial infused lipomatosis","Fibroadipose infiltrating lipomatosis"]},"uk":{"name":"Вроджений інфільтративний ліпоматоз обличчя","synonyms":["CIL-F","Інфільтрований ліпоматоз обличчя","Фіброзно-дипозний інфільтративний ліпоматоз"],"definition":"A rare PIK3CA-related overgrowth syndrome characterized by congenital non-hereditary facial overgrowth due to post-zygotic activating mutations in the <i>PIK3CA</i> gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face, including hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Early eruption of the teeth is common."},"zh":{"name":"先天性面部浸润性多发性脂肪瘤样病","synonyms":["纤维脂肪性浸润性脂肪瘤病"]},"tr":{"name":"Yüzün doğumsal infiltratif lipomatozu","synonyms":["CIL-F","Fasiyal infüze lipomatoz","Fibroadipoz infiltre edici lipomatoz"]}},"xrefs":[{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF02.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1669603167"},{"source":"MONDO","code":"0035592","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680341","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":530313,"name":"PIK3CA-related overgrowth spectrum disorder","classifications":[147,156]}],"children":[],"genes":[{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28846548[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":59.0,"area":"Worldwide","status":"Validated","source":"31280031[PMID]_25860506[PMID]_28846548[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31280031[PMID]_25860506[PMID]_28846548[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-29","source":"36826055[PMID]_32770747[PMID]_31280031[PMID]_28846548[PMID]","terms":[{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007552","label":"Abnormal subcutaneous fat tissue distribution","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030812","label":"Enlarged tonsils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011801","label":"Enlargement of parotid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0430028","label":"Hyperplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012370","label":"Prominence of the zygomatic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006349","label":"Agenesis of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007206","label":"Hemimegalencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031023","label":"Multiple mucosal neuromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012478","label":"Temporomandibular joint ankylosis","frequency":"Occasional (29-5%)","criteria":null}]}}