Crouzon syndrome

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Description from OMIM

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).



Prevalence of clinical parameters (%)







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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Craniosynostosis skeletal 100 % 15885794 2012-05-09
Midfacial hypoplasia skeletal 100 % 15885794 2012-05-09
Proptosis nervous 100 % 15885794 2012-05-09
Hypertelorism skeletal 100 % 15885794 2012-05-09
Hypermetropia nervous 57 % 15885794 2012-05-09
Strabismus nervous 39 % 15885794 2012-05-09
Amblyopia nervous 21 % 15885794 2012-05-09
Myopia nervous 20 % 15885794 2012-05-09
Optic atrophy nervous 7 % 15885794 2012-05-09
Cataract nervous 2 % 15885794 2012-05-09
Retinitis pigmentosa nervous 2 % 15885794 2012-05-09



List of references:


Ophthalmic sequelae of Crouzon syndrome.
Timothy L Gray, Theresa Casey, Dinesh Selva, Peter J Anderson, David J David,

To document the frequency of ophthalmic sequelae in patients with Crouzon syndrome before the influence of craniofacial surgery.

Ophthalmology - Jun 2005