| H01886 | |
| H番号 | H01886 |
| 名称 | Van den Ende-Gupta 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | SCARF2 [HSA:91179] [KO:K24319] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.41 ICD-10: Q87.0 MeSH: C535909 OMIM: 600920 |
| 文献 | PMID:1609830 著者 van den Ende JJ, van Bever Y, Rodini ES, Richieri-Costa A タイトル Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. 雑誌 Am J Med Genet 42:467-9 (1992) DOI:10.1002/ajmg.1320420411 PMID:17937442 著者 Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA タイトル Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. 雑誌 Am J Med Genet A 143A:2706-11 (2007) DOI:10.1002/ajmg.a.32007 PMID:21108395 著者 Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T タイトル Further delineation of the Van den Ende-Gupta syndrome. 雑誌 Am J Med Genet A 152A:3095-100 (2010) DOI:10.1002/ajmg.a.33725 PMID:20887961 著者 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 タイトル Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. 雑誌 Am J Hum Genet 87:553-9 (2010) DOI:10.1016/j.ajhg.2010.09.005 |