{"orpha":2460,"name":"Van den Ende-Gupta syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Marden-Walker-like syndrome","VDEGS"],"definition":"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2460/","orphanet_url":"https://www.orpha.net/en/disease/detail/2460","names":{"fr":{"name":"Syndrome de Van den Ende-Gupta","synonyms":["Syndrome de Marden-Walker-like","VDEGS"],"definition":"Le syndrome de Van den Ende-Gupta est un syndrome très rare qui se caractérise par un blépharophimosis, une arachnodactylie, des contractures articulaires, et des traits dysmorphiques."},"de":{"name":"Van den Ende-Gupta-Syndrom","synonyms":["Marden-Walker-ähnliches Syndrom","VDEGS"]},"es":{"name":"Síndrome de Van den Ende-Gupta","synonyms":["Síndrome similar a Marden-Walker","VDEGS"],"definition":"El síndrome de Van den Ende-Gupta es un síndrome muy poco frecuente caracterizado por blefarofimosis, aracnodactilia, contracturas articulares y rasgos dismórficos característicos."},"it":{"name":"Sindrome di Van den Ende-Gupta","synonyms":["Sindrome Marden-Walker-simile","VDEGS"]},"nl":{"name":"Syndroom van Van den Ende-Gupta","synonyms":["Marden-Walker-achtig syndroom","VDEGS"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door blefarofimose, arachnodactylie, gewrichtscontracturen, en typische dysmorfe kenmerken."},"pt":{"name":"Síndrome Van den Ende-Gup","synonyms":["Síndrome Marden-Walker-like","VDEGS"]},"pl":{"name":"Zespół Van den Ende i Gupta","synonyms":["VDEGS","Zespół podobny do zespołu Mardena i Walkera"]},"cs":{"name":"Van den Endové-Guptův syndrom","synonyms":["Syndrom podobný Mardenovu-Walkerovu syndromu","VDEGS","Van den Ende-Guptův syndrom","Syndrom podobný Marden-Walkerovu syndromu"]},"uk":{"name":"Синдром Ван ден Енде-Гупта","synonyms":["Синдром Мардена-Уокера","VDEGS"],"definition":"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features."},"zh":{"name":"Van den Ende-Gupta综合征","synonyms":["类Marden-Walker综合征"]},"tr":{"name":"Van den Ende-Gupta sendromu","synonyms":["VDEGS","Marden-Walker benzeri sendrom"]}},"xrefs":[{"source":"OMIM","code":"600920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1740735985"},{"source":"MONDO","code":"0010959","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535909","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833136","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3382","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[{"symbol":"SCARF2","name":"scavenger receptor class F member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20887961[PMID]_22140376[PMID]","hgnc":"19869","ensembl":"ENSG00000244486","omim":"613619","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":29.0,"area":"Worldwide","status":"Validated","source":"24478002[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24478002[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-29","source":"33783941[PMID]_27375131[PMID]_23808541[PMID]","terms":[{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034391","label":"Elbow contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034392","label":"Joint contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000895","label":"Lateral clavicle hook","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000460","label":"Narrow nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006236","label":"Slender metacarpals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008744","label":"Abnormal aryepiglottic fold morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009929","label":"Abnormal columella morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004411","label":"Deviated nasal septum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006633","label":"Glenoid fossa hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034671","label":"Knee contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null}]}}