Fibroblast Growth Factors (FGFs) are a large family of proteins that signal through Fibroblast Growth Factor Receptors (FGFR), on Chromosome 10. Mutations within FGFR2 gene are known to lead to Apert Syndrome, an autosomal dominant disorder that is responsible for:
Virtually all incidents of Apert Syndrome are instigated by the missense mutation in one of the two adjacent amino acid residues (Ser252Trp or Pro253Arg) in the highly conserved region linking Ig-like domains II and III of FGFR2. Despite the disease's social-economical taxing nature, patients and families are presented with a reprieve, that orthodontics and Craniomaxillofacial surgeons can drastically ameliorate the quality of life through cosmetic and therapeutic operations.
- Craniosynostosis (the premature fusion of the sutures of the skull)
- Bicoronal synostosis
- Mid-face hypoplasia
- Complex syndactyly of the phalanges in hand and feet
- Central Nervous System Malformations
Virtually all incidents of Apert Syndrome are instigated by the missense mutation in one of the two adjacent amino acid residues (Ser252Trp or Pro253Arg) in the highly conserved region linking Ig-like domains II and III of FGFR2. Despite the disease's social-economical taxing nature, patients and families are presented with a reprieve, that orthodontics and Craniomaxillofacial surgeons can drastically ameliorate the quality of life through cosmetic and therapeutic operations.