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Crouzon syndrome in Adult
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Crouzon syndrome in Adult

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Contributors: Deepak Sobti MD, Harold E. Cross MD, PhD, Lauren Patty Daskivich MD, MSHS, Lowell A. Goldsmith MD, MPH
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Synopsis

Crouzon syndrome is a genetic disorder characterized by craniosynostosis. It is the most common of the craniosynostosis syndromes, with approximately 16 in 1 million newborns diagnosed with the disorder in the United States and 1 in 25 000 worldwide per year. The syndrome is an autosomal dominant disorder in familial cases but also occurs sporadically. The syndrome is caused by the mutation in the fibroblast growth factor receptor-2 gene named FGFR2. This gene codes for a protein that stimulates the growth of bone cells during the development of the embryo. Distinctive malformations of the skull and face are the primary features, including proptosis and relative mandibular prognathism.

Acanthosis nigricans may be present during childhood. Headaches and optic atrophy may result from increased intracranial pressure from hydrocephalus. Convulsions are common. A decrease in mental function occurs in about 15% of patients. Conductive deafness often occurs because of ear canal atresia and stenosis. There may be loss of vision due to exposure keratitis and corneal ulceration secondary to poor lid closure. There may also be an obstruction of the upper airways due to septal deviation, choanal abnormalities, midnasal abnormalities, and nasopharyngeal narrowing.

For more information, see OMIM.

For more information on Crouzon syndrome with acanthosis nigricans, see OMIM.

Codes

ICD10CM:
Q75.1 – Craniofacial dysostosis

SNOMEDCT:
28861008 – Crouzon syndrome

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Differential Diagnosis & Pitfalls

More than half of the people with this syndrome have the FGFR2 gene mutations that are also found in allelic disorders such as Apert syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome. These disorders have features that overlap and can make classification difficult. Apert syndrome is caused by a specific mutation, in contrast to the other syndromes that exist due to multiple mutations. The difference between Crouzon syndrome and the other craniosynostosis syndromes is a lack of hand and feet abnormalities.

Optic atrophy and subluxation of the globe are seen in Crouzon syndrome but are not characteristic of Apert syndrome.

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Last Updated: 09/20/2017
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Crouzon syndrome in Adult
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Crouzon syndrome : Craniosynostosis, Hypertelorism, Maxillary hypoplasia, Short stature, Strabismus, Proptosis
Clinical image of Crouzon syndrome
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