{"orpha":464738,"name":"Basel-Vanagaite-Smirin-Yosef syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464738/","orphanet_url":"https://www.orpha.net/en/disease/detail/464738","names":{"fr":{"name":"Syndrome de Basel-Vanagaite-Smirin-Yosef","definition":"Syndrome de déficience intellectuelle rare d'origine génétique caractérisé par un retard sévère de développement global associé à une déficience intellectuelle, une microcéphalie, un retard de croissance, des anomalies oculaires telles qu'une cataracte congénitale et un nævus simplex sur le front. Des anomalies cardiaques, urogénitales et squelettiques, ainsi que des convulsions sont présentes chez la plupart des patients. La dysmophie craniofaciale caractéristique se traduit, entre autres, par une pilosité et des cheveux clairsemés, des fentes palpébrales inclinées vers le bas, un hypertélorisme, une pointe nasale large et tombante et un philtrum court."},"de":{"name":"Basel-Vanagaite-Smirin-Yosef-Syndrom","definition":"Ein genetisch bedingtes Syndrom der Intelligenzminderung, das durch eine schwere globale Entwicklungsverzögerung mit Intelligenzminderung, Mikrozephalie, Wachstumsverzögerung, okuläre Defekte wie kongenitalen Katarakt und Naevus flammeus simplex an der Stirn gekennzeichnet ist. Herz-, Urogenital- und Skelettanomalien sowie Krampfanfälle sind bei den meisten Patienten vorhanden. Zu den dysmorphen kraniofazialen Merkmalen zählen unter anderem spärliches Haar, schräg abwärts verlaufende Lidspalten, Hypertelorismus, eine breite und überhängende Nasenspitze und ein kurzes Philtrum."},"es":{"name":"Síndrome de Basel-Vanagaite-Smirin-Yosef","definition":"Es un síndrome de discapacidad intelectual de origen genético y poco frecuente, caracterizado por un grave retraso global del desarrollo con discapacidad intelectual, microcefalia, retraso del crecimiento, defectos oculares tales como cataratas congénitas y nevo flamígero simple en la frente. La mayoría de los pacientes presenta anomalías cardíacas, urogenitales y esqueléticas, así como crisis epilépticas. Los rasgos craneofaciales dismórficos incluyen cabello escaso, fisuras palpebrales descendentes, hipertelorismo, punta nasal ancha y prominente y filtrum corto, entre otros."},"it":{"name":"Sindrome di Basel-Vanagaite-Smirin-Yosef","definition":"Si tratta di una malattia genetica rara da disabilità intellettiva, caratterizzata da grave ritardo dello sviluppo globale con disabilità intellettiva, microcefalia, ritardo della crescita, difetti oculari (cataratta congenita) e nevo flammeo semplice sulla fronte. La maggior parte dei pazienti presenta cardiopatie, anomalie urogenitali e scheletriche, e crisi epilettiche. I dismorfismi craniofacciali comprendono i capelli radi, le rime palpebrali oblique verso il basso, l'ipertelorismo, la punta del naso larga e sporgente e il filtro corto."},"nl":{"name":"Syndroom van Basel-Vanagaite-Smirin-Yosef","definition":"Een zeldzaam, genetisch syndroom met intellectuele achterstand, gekarakteriseerd door ernstige algehele ontwikkelingsachterstand met intellectuele achterstand, microcefalie, groeiretardatie, oogdefecten zoals congenitaal cataract, en naevus flammeus simplex op het voorhoofd. Urogenitale afwijkingen en hart- en skeletanomalieën, alsook insulten zijn aanwezig bij de meeste patiënten. Dysmorfe craniofaciale kenmerken zijn onder meer schaars haar, schuin naar beneden hellende ooglidspleten, hypertelorisme, brede en overhangende neuspunt, en kort filtrum."},"pt":{"name":"Síndrome Basel-Vanagaite-Smirin-Yosef"},"pl":{"name":"Zespół Basel-Vanagaite i Smirin-Yosef"},"cs":{"name":"Syndrom zahrnující vrozenou kataraktu, mikrocefalii, nevus flammeus simplex a těžkou mentální retardaci"},"uk":{"name":"Синдром Базеля-Ванагайта-Сміріна-Йосефа","definition":"A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others."},"zh":{"name":"先天性白内障-小头畸形-单纯性痣-严重智力障碍综合征","definition":"一种罕见的多发性先天性异常/畸形综合征，伴有智力障碍，其特点是严重的全面发育迟缓，伴有智力障碍、小头畸形、发育迟缓、眼部缺陷，如先天性白内障和前额的单纯性焰色痣。在大多数患者中也会出现心脏、泌尿生殖系统和骨骼异常，以及癫痫发作。颅面部的畸形特征包括头发稀疏、下睑裂、器官间距过远、短人中等。脑影像学检查可显示胼胝体薄或脑萎缩。"},"tr":{"name":"Doğumsal katarakt-mikrosefali-nevüs flammeus simpleks-ağır zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"616449","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014643","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225323","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]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"MED25","name":"mediator complex subunit 25","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25792360[PMID]","hgnc":"28845","ensembl":"ENSG00000104973","omim":"610197","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"25792360[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25792360[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-03","source":"25792360[PMID]_25527630[PMID]","terms":[{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007413","label":"Nevus flammeus of the forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","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},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010186","label":"Broad distal phalanx of the toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002389","label":"Cavum septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009471","label":"Contracture of the proximal interphalangeal joint of the 3rd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009468","label":"Deviation of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007082","label":"Dilated third ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011670","label":"Left superior vena cava draining to coronary sinus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032077","label":"Male urethral meatus stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010557","label":"Overlapping fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}