Table 1. Common mendelian causes of craniosynostosis.
| Gene | Chromosome | Phenotype | Reference |
|---|---|---|---|
| FGFR1 |
8p |
Pfeiffer Syndrome Jackson Weiss Syndrome |
87–89 87 |
| FGFR2 |
10q |
Crouzon Syndrome Jackson Weiss Syndrome Apert Syndrome Pfeiffer Syndrome Beare Stevenson Syndrome |
87, 90 87 29, 91–93 94, 95 96 |
| FGFR3 |
4p |
Cruzon Syndrome with Acanthosis Muenke Syndrome Thantophoric Dysplasia |
97 98, 99 100 |
| EFNB1 |
Xq |
Craniofrontonasal Syndrome |
101 |
| TWIST1 |
7p |
Saethre-Chotzen Syndrome |
102, 103 |
| MSX2 |
5q |
Craniosynostosis (Boston-Type) |
102 |
| RAB23 | 6p | Carpenter Syndrome | 46 |