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Crouzon syndrome

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Description

Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

124

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Genes

External Links

  • OMIM
  • Orphanet

    207

  • HPO

    3131

  • Medgen

    C0010273

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