| H00638 | |
| H番号 | H00638 |
| 名称 | EEC 症候群 |
| 概要 | Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the hands and feet, ectodermal dysplasia affecting skin, hair, and nails, and cleft lip with or without cleft palate. Other symptoms include anomalies of eyes and urinary tract. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | TP63 [HSA:8626] [KO:K10149] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Isolated ectrodactyly is described in split-hand/foot malformation (H00471). |
| リンク | ICD-11: LD27.0Y ICD-10: Q82.4 MeSH: C565062 C565799 OMIM: 604292 |
| 文献 | PMID:20944926 著者 Trope BM, Salomao JN, Costa VD, Verde RB, Barros DS タイトル Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. 雑誌 An Bras Dermatol 85:573-5 (2010) DOI:10.1590/S0365-05962010000400027 PMID:1261073 著者 Rosenmann A, Shapira T, Cohen MM タイトル Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature. 雑誌 Clin Genet 9:347-53 (1976) DOI:10.1111/j.1399-0004.1976.tb01585.x PMID:10535733 著者 Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H タイトル Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 雑誌 Cell 99:143-53 (1999) DOI:10.1016/S0092-8674(00)81646-3 |