| H01756 | |
| H番号 | H01756 |
| 名称 | ファイファー症候群 |
| 概要 | Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, brachycephaly, midface hypoplasia, and broad and deviated thumbs and great toes. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three subtypes. Type 1 involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities. It is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Mutations of the FGFR1 gene or FGFR2 gene can cause Pfeiffer syndrome. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06526(H01756) MAPK signaling |
| 病因遺伝子 | FGFR1 [HSA:2260] [KO:K04362] FGFR2 [HSA:2263] [KO:K05093] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00458 Craniosynostosis. |
| リンク | ICD-11: LD24.G0 ICD-10: Q87.0 MeSH: D000168 OMIM: 101600 |
| 文献 | PMID:21248745 著者 Johnson D, Wilkie AO タイトル Craniosynostosis. 雑誌 Eur J Hum Genet 19:369-76 (2011) DOI:10.1038/ejhg.2010.235 PMID:16740155 著者 Vogels A, Fryns JP タイトル Pfeiffer syndrome. 雑誌 Orphanet J Rare Dis 1:19 (2006) DOI:10.1186/1750-1172-1-19 PMID:7874169 (FGFR1) 著者 Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, et al. タイトル A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 雑誌 Nat Genet 8:269-74 (1994) DOI:10.1038/ng1194-269 PMID:7719345 (FGFR2) 著者 Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al. タイトル Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 雑誌 Nat Genet 9:173-6 (1995) DOI:10.1038/ng0295-173 |