| H01886 | |
| H number | H01886 |
| Name | Van den Ende-Gupta syndrome |
| Description | Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder with characteristic craniofacial and skeletal manifestations. Characteristic features of VDEGS include blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge everted lower lip, arachnodactyly, camptodactyly, slender ribs, underdeveloped glenoid fossa, and mild bowing of long bones, while growth and development are normal. The pattern of inheritance has been suggested to be autosomal recessive, but several reports have suggested it to be autosomal dominant. |
| Category | Congenital malformation |
| Network | - |
| Gene | SCARF2 [HSA:91179] [KO:K24319] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD26.41 ICD-10: Q87.0 MeSH: C535909 OMIM: 600920 |
| Reference | PMID:1609830 AUTHORS van den Ende JJ, van Bever Y, Rodini ES, Richieri-Costa A TITLE Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. JOURNAL Am J Med Genet 42:467-9 (1992) DOI:10.1002/ajmg.1320420411 PMID:17937442 AUTHORS Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA TITLE Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. JOURNAL Am J Med Genet A 143A:2706-11 (2007) DOI:10.1002/ajmg.a.32007 PMID:21108395 AUTHORS Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T TITLE Further delineation of the Van den Ende-Gupta syndrome. JOURNAL Am J Med Genet A 152A:3095-100 (2010) DOI:10.1002/ajmg.a.33725 PMID:20887961 AUTHORS Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA TITLE Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. JOURNAL Am J Hum Genet 87:553-9 (2010) DOI:10.1016/j.ajhg.2010.09.005 |