| H01756 | |
| H number | H01756 |
| Name | Pfeiffer syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06526(H01756) MAPK signaling |
| Gene | FGFR1 [HSA:2260] [KO:K04362] FGFR2 [HSA:2263] [KO:K05093] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | See also H00458 Craniosynostosis. |
| Other DBs | ICD-11: LD24.G0 ICD-10: Q87.0 MeSH: D000168 OMIM: 101600 |
| Reference | PMID:21248745 AUTHORS Johnson D, Wilkie AO TITLE Craniosynostosis. JOURNAL Eur J Hum Genet 19:369-76 (2011) DOI:10.1038/ejhg.2010.235 PMID:16740155 AUTHORS Vogels A, Fryns JP TITLE Pfeiffer syndrome. JOURNAL Orphanet J Rare Dis 1:19 (2006) DOI:10.1186/1750-1172-1-19 PMID:7874169 (FGFR1) AUTHORS Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, et al. TITLE A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. JOURNAL Nat Genet 8:269-74 (1994) DOI:10.1038/ng1194-269 PMID:7719345 (FGFR2) AUTHORS Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al. TITLE Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. JOURNAL Nat Genet 9:173-6 (1995) DOI:10.1038/ng0295-173 |