Table 1.
Craniosynostotic conditions | Clinical features | FGFR mutations and locations |
---|---|---|
Apert syndrome | Acrocephaly, proptosis, mid-facial hypoplasia, severe bilateral bony and cutaneous syndactily of both hands and feet | P253R |
FGFR2, linker between the II and III Ig-like domains | ||
Pfeiffer type II syndrome | Cloverleaf skull, mid-facial hypoplasia, severe ocular proptosis, digit anomalies | C342R |
FGFR2, III Ig-like domain | ||
Nonsyndromic craniosynostosis | Coronal stenosis, plagiocephaly, hypertelorism and invaginated occipital bone | No canonic FGFR mutations (NCM) |