Features

 FGFRs

Pathology

 germline FGFR2 mutations in

• craniosynostoses
  • Pfeiffer syndrome
  • Crouzon syndrome
  • Jackson-Weiss syndrome

• Antley-Bixler syndrome (MIM.207410) (also caused by POR deficiency)

References

 Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet. 1998 May 18;77(3):219-24. PMID: #9605588#

 Wilkie AO. Craniosynostosis : genes and mechanisms. Hum Mol Genet. 1997 ;6(10):1647-56. PMID : #9300656#

 Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet. 1995 Jul ;4(7):1229-33. PMID : #8528214#