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Disease characteristics

Excerpted from the GeneReview: FGFR-Related Craniosynostosis Syndromes
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.

Associated genes

  • Also known as: BFGFR, CD331, CEK, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1, FGFR1
    Summary: fibroblast growth factor receptor 1

  • Also known as: BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25, FGFR2
    Summary: fibroblast growth factor receptor 2

Clinical features

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  • Strabismus
  • Hallux varus
  • Short metatarsal
  • Finger syndactyly
  • Craniosynostosis
  • Midface retrusion
  • Malar flattening
  • Proptosis
  • 2-3 toe syndactyly
  • Abnormality of the palate
  • Mandibular prognathia
  • Hypertelorism
  • Convex nasal ridge
  • Ptosis
  • Toe syndactyly
  • Broad metatarsal
  • Split foot
  • Preaxial foot polydactyly
  • Frontal bossing
  • Abnormality of the fibula
  • Calcaneonavicular fusion
  • Tarsal synostosis
  • Symphalangism affecting the phalanges of the hand
  • Underdeveloped supraorbital ridges
  • Broad hallux
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