{"orpha":352712,"name":"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FILS syndrome"],"definition":"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352712/","orphanet_url":"https://www.orpha.net/en/disease/detail/352712","names":{"fr":{"name":"Syndrome de dysmorphie faciale-déficit immunitaire-livedo-petite taille","synonyms":["Syndrome FILS","Syndrome de dysmorphie faciale-immunodéficience-livedo-petite taille"],"definition":"Maladie génétique rare caractérisée par une dysmorphie faciale avec hypoplasie malaire et front haut, une immunodéficience entraînant des infections récurrentes, un retard de croissance (avec une production et une réponse normales de l'hormone de croissance) entraînant une petite taille, et un livedo affectant le visage et les extrémités. Les analyses immunologiques montrent un faible nombre de lymphocytes B mémoires et de lymphocytes T naïfs, une diminution de la prolifération des lymphocytes T et des titres d'IgM, d'IgG2 et d'IgG4 réduits. Il n'existe pas de susceptibilité accrue au cancer."},"de":{"name":"Gesichtsdysmorphie-Immundefekt-Livedo-Kleinwuchs-Syndrom","synonyms":["FILS-Syndrom"]},"es":{"name":"Síndrome de dismorfia facial-inmunodeficiencia-livedo-talla baja","definition":"Es una enfermedad genética poco frecuente caracterizada por dismorfia facial con hipoplasia malar y frente alta, inmunodeficiencia que resulta en infecciones recurrentes, crecimiento deficiente (con producción y respuesta de la hormona de crecimiento normales) que resulta en talla baja y livedo que afecta a la cara y extremidades. Los análisis inmunológicos muestran un recuento bajo de células B de memoria y de células T ''naive'', disminución de la proliferación de células T y títulos reducidos de IgM, IgG2 e IgG4. Los afectados no presentan mayor susceptibilidad al cáncer."},"it":{"name":"Sindrome da dismorfismi facciali, immunodeficienza, livedo, bassa statura","synonyms":["Sindrome FILS"],"definition":"La sindrome che associa dismorfismi facciali, immunodeficienza, livedo e bassa statura è una malattia genetica rara, caratterizzata da dismorfismi facciali con ipoplasia malare e fronte alta, immunodeficienza che esita in infezioni ricorrenti, ritardo della crescita (con produzione e risposta normali dell'ormone della crescita) che esita nella bassa statura, e nella livedo al viso e agli arti. Le analisi immunologiche evidenziano livelli bassi di linfociti B della memoria e dei linfociti T naïve, una riduzione della proliferazione dei linfociti T e titoli bassi di IgM, IgG2 e IgG4. I pazienti non presentano maggiore predisposizione ai tumori."},"nl":{"name":"Faciale dysmorfie - immuundeficiëntie - livedo - kleine gestalte-syndroom","synonyms":["FILS-syndroom"],"definition":"Faciale dysmorfie - immuundeficiëntie - livedo - kleine gestalte-syndroom is een zeldzame, genetische die gekarakteriseerd wordt door faciale dysmorfie met malaire hypoplasie en hoog voorhoofd, immuundeficiëntie met recurrente infecties tot gevolg, verstoorde groei (met normale productie van en respons op groeihormonen) met als gevolg een kleine gestalte, en livedo aan het gelaat en de ledematen. Immunologische analyses tonen lage aantallen van B-geheugencellen en naïeve T-cellen, verminderde proliferatie van T-cellen, en verlaagde titers van IgM, IgG2 en IgG4. Patiënten vertonen geen verhoogde susceptibiliteit voor kanker."},"pt":{"name":"Síndrome de dismorfia facial-imunodeficiência-livedo-baixa estatura"},"pl":{"name":"Dysmorfia twarzy - Niedobór odporności - siność - niski wzrost","synonyms":["Zespół FILS"],"definition":"*Dysmorfia twarzy - niedobór odporności - siność - niski wzrost jest rzadką chorobą genetyczną, która charakteryzuje się dysmorfią twarzy z hipoplazją kości jarzmowej i wysokim czołem, niedoborem odporności powodującym nawracające infekcje, upośledzonym wzrastaniem (przy prawidłowej produkcji i odpowiedzi na hormonu wzrostu), co prowadzi do niskiego wzrostu oraz sinością, dotyczącą twarz i kończyn. W badaniu immunologicznym stwierdza się obniżoną liczbę limfocytów B pamięci oraz limfocytów Th0, zmniejszoną proliferację limfocytów T i zmniejszone miana przeciwciał IgM, IgG2 i IgG4. Pacjenci nie są narażeni na zwiększone ryzyko zachorowanie na chorobę nowotworową."},"cs":{"name":"Syndrom zahrnující faciální dysmorfismus, imunodeficienci, livedo a nízký vzrůst","synonyms":["FILS syndrom"]},"uk":{"name":"Синдром дисморфізму обличчя-імунодефіциту-livedo-низькорослості","synonyms":["Синдром FILS"],"definition":"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer."},"zh":{"name":"面部畸形-免疫缺陷-青斑-身材矮小综合征","synonyms":["FLIS综合征"],"definition":"面部畸形-免疫缺陷-活体矮小综合征是一种罕见的遗传病，其特征是面部畸形伴颧骨发育不良和高额头，免疫缺陷所致反复感染，生长发育障碍(生长激素分泌和反应正常)所致身材矮小以及分布在面部和四肢的青斑。免疫学分析显示记忆性B细胞和幼稚T细胞数量减少，T细胞增殖减少，IgM、IgG2和IgG4滴度降低。患者不会表现出对癌症的易感性增加。"},"tr":{"name":"Yüz dismorfizmi-immün yetmezlik-livingo-kısa boy sendromu","synonyms":["FILS sendromu"]}},"xrefs":[{"source":"OMIM","code":"615139","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014058","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749948","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"POLE","name":"DNA polymerase epsilon, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23230001[PMID]","hgnc":"9177","ensembl":"ENSG00000177084","omim":"174762","loci":["12q24.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"23230001[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}