{"orpha":598603,"name":"Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FHEIG syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability and/or developmental delay, epilepsy, generalized hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-598603/","orphanet_url":"https://www.orpha.net/en/disease/detail/598603","names":{"fr":{"name":"Syndrome de dysmorphie faciale-hypertrichose-épilepsie-déficience intellectuelle/retard de développement-hypertrophie gingivale","synonyms":["Syndrome FHEIG"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une déficience intellectuelle variable et/ou un retard de développement, une épilepsie, une hypertrichose généralisée, une croissance excessive des gencives et une déficience visuelle chez certains patients. Les caractéristiques craniofaciales communes sont un rétrécissement bitemporal, des sourcils broussailleux et droits, de longs cils, des oreilles d'implantation basse, un philtrum profond/court, une lèvre supérieure éversée, un vermillon supérieur et inférieur proéminent, une bouche large, une micrognathie et une rétrognathie."},"de":{"name":"Gesichtsdysmorphie-Hypertrichose-Epilepsie-Intelligenzminderung/Entwicklungsverzögerung-Gingivahypertrophie-Syndrom","synonyms":["FHEIG-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch variable Intelligenzminderung und/oder Entwicklungsverzögerung, Epilepsie, generalisierte Hypertrichose, schwere Zahnfleischwucherung und bei einigen Patienten Sehstörungen gekennzeichnet ist. Häufige kraniofaziale Merkmale sind eine bitemporale Verengung, buschige und gerade Augenbrauen, lange Wimpern, tief sitzende Ohren, ein tiefes/kurzes Philtrum, eine evertierte Oberlippe, eine hervorstehende Ober- und Unterlippe, ein breiter Mund, eine Mikrognathie und eine Retrognathie."},"es":{"name":"Síndrome de dismorfia facial-hipertricosis-epilepsia-discapacidad intelectual/retraso del desarrollo-hiperplasia gingival","synonyms":["Síndrome de FHEIG"],"definition":"Es un síndrome dismórfico con anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por discapacidad intelectual variable y/o retraso del desarrollo, epilepsia, hipertricosis generalizada, sobrecrecimiento gingival grave y discapacidad visual en algunos pacientes. Las características craneofaciales comunes incluyen estrechamiento bitemporal, cejas pobladas y rectas, pestañas largas, orejas de implantación baja, filtrum profundo/corto, labio superior evertido, bermellón superior e inferior prominentes, boca ancha, micrognatia y retrognatia."},"it":{"name":"Sindrome da dismorfismi facciali, ipertricosi, epilessia, disabilità intellettiva/ritardo dello sviluppo e ipertrofia delle gengive","synonyms":["Sindrome FHEIG"]},"nl":{"name":"Syndroom van faciale dysmorfie - hypertrichose - epilepsie - intellectuele achterstand/ontwikkelingsachterstand - overgroei van gingiva","synonyms":["FHEIG-syndroom"],"definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door variabele intellectuele achterstand en/of ontwikkelingsachterstand, epilepsie, gegeneraliseerde hypertrichose, ernstige overgroei van gingiva, en verlies van gezichtsvermogen bij sommige patiënten. Gangbare craniofaciale kenmerken zijn onder meer bitemporale vernauwing, volle en rechte wenkbrauwen, lange wimpers, laagstaande oren, diep/kort filtrum, eversie van bovenlip, prominent bovenste en onderste vermiljoen, brede mond, micrognathie, en retrognathie."},"pt":{"name":"Síndrome de dismorfia facial-hipertricose-epilepsia-perturbação do desenvolvimento intelectual/atraso do desenvolvimento-sobrecrescimento gengival","synonyms":["Síndrome FHEIG"],"definition":"Síndrome dismórfica/de anomalias congénitas múltiplas, genética, rara, caracterizada por perturbação do desenvolvimento intelectual variável e/ou atraso do desenvolvimento, epilepsia, hipertricose generalizada, crescimento gengival excessivo grave e deficiência visual em alguns doentes. As características craniofaciais comuns incluem estreitamento bitemporal, sobrancelhas espessas e retas, pestanas longas, pavilhões auriculares baixamente implantados, filtro profundo/curto, lábio superior evertido, lábios superior e inferior proeminentes, boca larga, micrognatia e retrognatia."},"pl":{"name":"Zespół przerostu dziąseł, niepełnosprawności intelektualnej/opóźnienia rozwoju, padaczki, hipertrichozy i dysmorfii twarzy","synonyms":["Zespół FHEIG"]},"cs":{"name":"Syndrom zahrnující obličejový dysmorfismus, hypertrichózu, epilepsii, mentální retardaci/opoždění vývoje a přerůstání dásní","synonyms":["FHEIG syndrome"]},"uk":{"name":"Синдром дисморфізму обличчя-гіпертрихозу-епілепсії-інтелектуальної недостатності/затримки розвитку-надмірного росту ясен","synonyms":["Синдром FHEIG"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability and/or developmental delay, epilepsy, generalized hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia."},"zh":{"name":"Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome","synonyms":["FHEIG syndrome"]},"tr":{"name":"Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome","synonyms":["FHEIG syndrome"]}},"xrefs":[{"source":"OMIM","code":"618381","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032714","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5193066","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":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KCNK4","name":"potassium two pore domain channel subfamily K member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30290154[PMID]","hgnc":"6279","ensembl":"ENSG00000182450","omim":"605720","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"30290154[PMID]_32981868[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30290154[PMID]_32981868[PMID]_ORPHANET"}],"phenotypes":null}