{"orpha":412022,"name":"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FDLAB syndrome","Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome","Traboulsi syndrome"],"definition":"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412022/","orphanet_url":"https://www.orpha.net/en/disease/detail/412022","names":{"fr":{"name":"Syndrome de dysmorphie faciale-luxation du cristallin-anomalies du segment antérieur-bulles filtrantes spontanées","synonyms":["Syndrome FDLAB","Syndrome de Traboulsi","Syndrome de dysmorphie faciale-luxation du cristallin-anomalies du segment antérieur-kystes conjonctivaux non-traumatiques"],"definition":"Anomalie syndromique du développement de l'oeil caractérisée par une subluxation ou une dislocation du cristallin, des anomalies du segment antérieur et une dysmorphie à type de joues plates et de nez proéminent en bec de canard. Les personnes atteintes peuvent développer des kystes conjonctivaux non traumatiques, également appelés « bulles de filtration »."},"de":{"name":"Gesichtsdysmorphien-Linsendislokation-vordere Segmentanomalien-spontane Sickerkissen-Syndrom","synonyms":["FDLAB-Syndrom","Gesichtsdysmorphien - Linsendislokation - vordere Segmentanomalien - nicht-traumatische konjunktivale Zysten","Traboulsi-Syndrom"]},"es":{"name":"Síndrome de dismorfia facial-luxación del cristalino-anomalías del segmento anterior-ampollas filtrantes espontáneas","synonyms":["Síndrome FDLAB","Síndrome de Traboulsi","Síndrome de dismorfia facial-luxación del cristalino-anomalías del segmento anterior-quistes conjuntivos no traumáticos"],"definition":"Es un defecto sindrómico del desarrollo del ojo, caracterizado por la luxación o subluxación del cristalino, anomalías del segmento anterior y rasgos faciales distintivos, tales como mejillas planas y nariz prominente y picuda. Los afectados pueden desarrollar quistes conjuntivales no traumáticos, también conocidos como ampollas filtrantes."},"it":{"name":"Sindrome da dismorfismi facciali, dislocazione del cristallino, anomalie del segmento anteriore, bolle filtranti spontanee","synonyms":["Sindrome FDLAB","Sindrome di Traboulsi","Sindrome dismorfismi facciali-dislocazione del cristallino-anomalie del segmento anteriore-cisti della congiuntiva non traumatiche"],"definition":"La sindrome che associa dismorfismi facciali, dislocazione del cristallino, anomalie del segmento anteriore e bolle filtranti spontanee è un difetto sindromico dello sviluppo dell'occhio, caratterizzato dalla dislocazione o sublussazione del cristallino, anomalie del segmento anteriore e dismorfismi facciali caratteristici (guance piatte e naso prominente a becco). I pazienti possono sviluppare cisti non traumatiche della congiuntiva, note come bolle filtranti."},"nl":{"name":"Faciale dysmorfie - lensdislocatie - anomalieën van voorste oogsegment - spontane filtratieblaasjes-syndroom","synonyms":["FDLAB-syndroom","Faciale dysmorfie - lensdislocatie - anomalieën van voorste oogsegment - niet-traumatische conjunctieve cysten-syndroom","Syndroom van Traboulsi"],"definition":"Faciale dysmorfie - lensdislocatie - anomalieën van het voorste segment - spontane filtratieblazen-syndroom is een syndromaal ontwikkelingsdefect van het oog dat gekarakteriseerd wordt door dislocatie of subluxatie van de kristallenzen, afwijkingen van het voorste segment, en typische gelaatskenmerken zoals vlakke wangen en een prominente, snavelvormige neus. Getroffen individuen ontwikkelen mogelijk niet-traumatische conjunctivale cysten, ook gekend als filtratieblazen."},"pt":{"name":"Síndrome de dismorfia facial – luxação do cristalino – anomalias do segmento ocular anterior – bolhas de filtração espontâneas"},"pl":{"name":"Zespół dysmorfia twarzy-przemieszczenie soczewki-zaburzenia przedniego segmentu-spontaniczne pęcherzyki filtracyjne spojówek","synonyms":["Zespół dysmorfia twarzy-przemieszczenie soczewki-zaburzenia przedniego segmentu-nieurazowe torbiele spojówki","Zespół FDLAB","Zespół Traboulsiego"],"definition":"*Zespół dysmorfia twarzy - zwichnięcia soczewek - zaburzenia przedniego odcinka oka - spontaniczne pęcherzyki filtracyjne spojówek to zespół zaburzeń rozwojowych oka, który charakteryzuje się zwichnięciem lub podwichnięciem soczewek, nieprawidłowościami przedniego odcinka oka oraz charakterystycznymi rysami twarzy: płaskimi policzkami i wydatnym, dziobiastym nosem. Bez poprzedzającego urazu mogą rozwinąć się torbiele spojówkowe, zwane również pęcherzami filtracyjnymi."},"cs":{"name":"Syndrom zahrnující faciální dysmorfismus, dislokaci čočky, abnormality předního segmentu a netraumatické cysty spojivky","synonyms":["FDLAB syndrom","Traboulsiho syndrom","Syndrom zahrnující faciální dysmorfismus, luxaci čočky, abnormality předního segmentu a netraumatické cysty spojivky"]},"uk":{"name":"Синдром дисморфізму обличчя-дислокації кришталика-аномалії переднього сегмента - спонтанних фільтруючих пухирців","synonyms":["Синдром дисморфізму обличчя - дислокації кришталика - аномалії переднього сегмента - нетравматичних кіст конюнктиви","Синдром FDLAB","Синдром Трабульсі"],"definition":"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs."},"zh":{"name":"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome","synonyms":["特拉布尔西综合征"],"definition":"面部畸形-晶状体脱位-眼前节畸形-自发滤过泡综合征是眼的综合征性发育缺陷，特征在于晶状体脱位或半脱位，眼前节畸形以及异常面部特征，例如平坦的脸颊和突出的喙状鼻子。受影响的个体可能会发展成非创伤性结膜囊肿，也称为滤泡。"},"tr":{"name":"Yüz dismorfizmi-lens dislokasyonu-anterior segment anormallikleri-spontan filtreleme kabarcık sendromu","synonyms":["Fasiyal dismorfizm-lens çıkığı-anterior segment anormallikleri-travmatik olmayan konjonktif kist sendromu","FDLAB sendromu","Traboulsi sendromu"]}},"xrefs":[{"source":"OMIM","code":"601552","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011106","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832167","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]}],"children":[],"genes":[{"symbol":"ASPH","name":"aspartate beta-hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24768550[PMID]","hgnc":"757","ensembl":"ENSG00000198363","omim":"600582","loci":["8q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24768550[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24768550[PMID]"}],"phenotypes":null}