Crouzon disease

(kroo-zon′ )

[Octave Crouzon, Fr. neurologist, 1874-1938]
An autosomal dominantly inherited congenital disease characterized by hypertelorism (widely spaced eyes), craniofacial dysostosis, exophthalmos, optic atrophy, and divergent squint. The disease is one of the craniosynostoses.

INCIDENCE
The disease occurs in about 1 in 25,000 to 100,000 births.

CAUSES
The disease is congenital and is inherited as an autosomal dominant trait.

RISK FACTORS
The older the father, the more likely the disease will be inherited.

SYMPTOMS AND SIGNS
Affected children have facial/structural anomalies described above that usually become clinically obvious by the age of two.

DIAGNOSIS
The appearance of the child is generally sufficient to establish the diagnosis. Clinical impression can be bolstered by radiological studies (plain films, CT scans, or MR imaging).

PREVENTION
See risk factors, above.

TREATMENT
Surgery can be used to repair craniofacial anomalies.

IMPACT ON HEALTH
The long-term outlook for patients with Crouzon disease depends on the number of cranial sutures involved. Patients with more suture involvement have more severe disease and more complications.

PATIENT CARE
Support groups for children with craniofacial abnormalities include the Children's Craniofacial Association, and the Cleft Palate foundation. Genetic counseling may be used to help inform reproductive choices for parents who have a child with Crouzon disease.

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