GTR Home > Conditions/Phenotypes > Crouzon syndrome with acanthosis nigricans

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

Clinical features

  • Strabismus
  • High forehead
  • Respiratory insufficiency
  • Arnold-Chiari malformation
  • Malar flattening
  • Proptosis
  • Hydrocephalus
  • Increased intracranial pressure
  • Abnormality of the palate
  • Hypertelorism
  • Conductive hearing impairment
  • Convex nasal ridge
  • Choanal atresia
  • Visual impairment
  • Ptosis
  • Optic atrophy
  • Acanthosis nigricans
  • Brachydactyly syndrome
  • Abnormality of the metacarpal bones
  • Frontal bossing
  • Migraine
  • Abnormal form of the vertebral bodies
  • Abnormality of the sacrum
  • Aplasia/Hypoplasia of the cerebellum
  • Inflammatory abnormality of the eye
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