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| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 3/10/2005 |
| Symbol | CRS6 |
| Location | 10q26.13 |
| Name | craniosynostosis, syndromatic 6 |
| Other name(s) | Jackson-Weiss syndrome |
| Corresponding gene | FGFR2 |
| Other symbol(s) | JWD,JWS |
| Main clinical features | midfacial hypoplasia and hands/feet anomalies, with great phenotypic variability |
| Genetic determination | autosomal dominant |
| Function/system disorder | osteo-articular |
| congenital malformation | |
| Type | disease |
| Gene product |
| Name | fibroblast growth factor receptor 2 (FGFR2) |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| frameshift | truncated protein |
| Remark(s) |