| Symbol
| CRS7A
|
| Location
| 8p11.22
|
| Name
|
craniosynostosis, syndromatic 7 |
| Other name(s)
|
Pfeiffer syndrome |
| Corresponding gene
|
FGFR1
|
| Other symbol(s)
| CRS7, 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 |
| Related entries
| . including case of Jackson-Weiss syndrome (OMIM123150), manifesting only mild craniofacial anomalies with a Pro252Arg mutation observed in Pfeiffer syndrome, and Noack syndrome
|
| Function/system disorder
| congenital malformation |
|
| osteo-articular |
| Type
| disease
|