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| GENATLAS PHENOTYPE |
| last update : 11/04/2006 |
| Symbol | CRS7B |
| Location | 10q26.13 |
| Name | craniosynostosis, syndromatic 7B |
| Other name(s) | Pfeiffer syndrome |
| Corresponding gene | FGFR2 |
| Other symbol(s) | PFS |
| Main clinical features | with characteristic broad thumbs and big toes, proximal phalanx of the thumb was either triangular or trapezoid (and occasionally fused with the distal phalanx) so that the thumb pointed outward and variability of expression, with form associated to cloverleafskull |
| Genetic determination | autosomal dominant |
| Function/system disorder | osteo-articular |
| congenital malformation | |
| Type | disease |
| Gene product |
| Name | fibroblast growth factor receptor 2 (FGFR2), mutated in 95p1200 of the patients with Pfeiffer syndrome |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|
| abnormal protein/gain of function
| D321A, retain ligand-dependency and also associated with severe limb pathology
| missense
|
|
| in the tyrosine kinase domain 1
| unknown
|
|
| S351C associated with vertebral anomalies and cartilaginous tracheal sleeve
| |
| Remark(s) | displaying a spectrum of non random mutations mostly of paternal origin with the frequent involvement of cysteine codons |
| Genotype/Phenotype correlations | limited number of recurrent amino-acid changes (W290C, Y340C, C342R and S351C) is commonly associated with the most severe Pfeiffer phenotypes of poor prognosis |