{"orpha":2025,"name":"Gingival fibromatosis-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2025/","orphanet_url":"https://www.orpha.net/en/disease/detail/2025","names":{"fr":{"name":"Syndrome de fibromatose gingivale-dysmorphie faciale","definition":"Le syndrome fibromatose gingivale - dysmorphie faciale est un syndrome exceptionnel associant une fibromatose gingivale à une dysmorphie craniofaciale."},"de":{"name":"Gingivale Fibromatose-Gesichtsdysmorphie-Syndrom"},"es":{"name":"Síndrome de fibromatosis gingival-dismorfia facial","definition":"Es un síndrome muy poco frecuente caracterizado por la asociación de fibromatosis gingival y dismorfia craneofacial."},"it":{"name":"Fibromatosi gengivale - dismorfismi facciali"},"nl":{"name":"Gingivale fibromatose - faciale dysmorfie-syndroom","definition":"Een zeer zeldzaam syndroom, gekenmerkt door de associatie van fibromatose van tandvlees en craniofaciale dysmorfie."},"pt":{"name":"Síndrome de fibromatose gengival-dismorfia facial"},"pl":{"name":"Włókniakowatość dziąseł - dysmorfia twarzy"},"cs":{"name":"Syndrom zahrnující gingivální fibromatózu a faciální dysmorfismus"},"uk":{"name":"Синдром фіброматозу ясен та дисморфізму обличчя","definition":"A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism."},"zh":{"name":"牙龈纤维瘤病-面部先天性畸形综合征"},"tr":{"name":"Dişeti fibromatozu-yüz dismorfizmi sendromu"}},"xrefs":[{"source":"OMIM","code":"228560","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009228","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304501","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10528","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1493643[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1493643[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Frequent (79-30%)","criteria":null}]}}