{"orpha":404451,"name":"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a <i> FLBN1 </i> gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404451/","orphanet_url":"https://www.orpha.net/en/disease/detail/404451","names":{"fr":{"name":"Syndrome de retard de développement-anomalie du système nerveux central-syndactylie dû à des mutations de FBLN1","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par un retard de développement moteur, une déficience intellectuelle, une dysarthrie, des signes de syndrome pseudo-bulbaire, une cryptorchidie et une syndactylie associée à une mutation ponctuelle du gène <i>FLBN1</i>. Une dégénérescence maculaire et des signes d'atrophie cérébrale et de compression médullaire ont également été rapportés."},"de":{"name":"FBLN1-abhängiges Entwicklungsverzögerung-ZNS-Anomalien-Syndaktylie-Syndrom"},"es":{"name":"Síndrome de retraso del desarrollo asociado a FBLN1-anomalía del sistema nervioso central-sindactilia","definition":"El síndrome de retraso del desarrollo asociado a FBLN1 - anomalía del sistema nervioso central - sindactilia, es un síndrome dismórfico de múltiples anomalías congénitas, genético y poco frecuente, caracterizado por retraso del desarrollo motor, discapacidad intelectual, disartria, signos pseudobulbares, criptorquidia y sindactilia asociado a una mutación puntual del gen <i>FLBN1</i>. También se ha descrito degeneración macular y signos de atrofia cerebral y compresión de la médula espinal."},"it":{"name":"Sindrome da ritardo dello sviluppo, anomalie del sistema nervoso centrale, sindattilia correlata a FBLN1","definition":"La sindrome che associa il ritardo dello sviluppo, le anomalie del sistema nervoso centrale e la sindattilia correlata a FBLN1 è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo motorio, disabilità intellettiva, disartria, segni pseudobulbari, criptorchidismo e sindattilia, causati da una mutazione puntiforme nel gene FLBN1. Può associarsi a degenerazione maculare e a segni secondari all'atrofia cerebrale e alla compressione del midollo spinale."},"nl":{"name":"FBLN1-gerelateerde ontwikkelingsachterstand - anomalie van centraal zenuwstelsel - syndactylie-syndroom","definition":"FBLN1-gerelateerd ontwikkelingsachterstand - anomalie van het centrale zenuwstelsel - syndactylie-syndroom is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door vertraagde motorische ontwikkeling, intellectuele achterstand, dysartrie, pseudobulbaire tekenen, cryptorchisme, en syndactylie, geassocieerd met een puntmutatie in het gen <i>FLBN1</i>. Maculadegeneratie en tekenen van hersenatrofie en compressie van het ruggenmerg werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de perturbação do desenvolvimento-anomalia do sistema nervoso central-sindactilia FBLN1-relacionada"},"pl":{"name":"Zespół opóźnienie rozwoju związane z FBLN1 - wady ośrodkowego układu nerwowego - syndaktylia","definition":"*Zespół opóźnienie rozwoju związane z FBLN1 - wady ośrodkowego układu nerwowego - syndaktylia jest rzadkim, genetycznie uwarunkowanym zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się opóźnionym rozwojem ruchowym, niepełnosprawnością intelektualną, dyzartrią, objawami rzekomoopuszkowymi, wnętrostwem i syndaktylią i który jest związany z mutacją punktową w genie FLBN1 . Opisywano także zwyrodnienie plamki żółtej, zanik mózgu i ucisk rdzenia kręgowego."},"cs":{"name":"FBLN1-vázaný syndrom zahrnující opožděný vývoj, anomálie centrálního nervového systému a syndaktylii"},"uk":{"name":"Синдром FBLN1-повязана затримка розвитку-аномалії центральної нервової системи-синдактилії","definition":"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a <i> FLBN1 </i> gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported."},"zh":{"name":"FBLN1相关的发育迟缓-中枢神经系统异常-并指（趾）综合征","definition":"与FBLN1相关的发育迟缓-中枢神经系统异常-并指畸形综合征是一种罕见的遗传性多发先天性异常/畸形综合征，其特征是运动发育迟缓，智力障碍，构音障碍，假性球症状，隐睾症以及与 FLBN1综合征基因点突变相关的并指畸形。也有黄斑变性，脑萎缩和脊髓压迫的报道。"},"tr":{"name":"FBLN1-ilişkili gelişme geriliği-merkezi sinir sistemi anomalisi-sindaktili sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018443","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751506","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"FBLN1","name":"fibulin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24084572[PMID]","hgnc":"3600","ensembl":"ENSG00000077942","omim":"135820","loci":["22q13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24084572[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24084572[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-04","source":"24084572[PMID]","terms":[{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008780","label":"Congenital bilateral hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007030","label":"Nonprogressive encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Frequent (79-30%)","criteria":null}]}}