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What is Crouzon Syndrome?

By Sarah Snypes
Updated May 17, 2024
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Initially described by French neurologist Octave Crouzon in 1912, Crouzon syndrome is a rare genetic deformity involving a premature closure of the skull’s coronal suture. Characteristics of this condition include downward slanted eyelids; wide set, bulging eyes; and an underdeveloped upper jaw. In the United States, Crouzon syndrome occurs once in every 25,000 births.

Also called craniofacial dystosis, Crouzon syndrome is similar to Apert’s syndrome, which affects the hands and feet as well as the skull and face. While many of the physical malformations associated with Apert’s do not present themselves in a Crouzon patient, both conditions are believed to have similar genetic originations. In Crouzon syndrome, the deformity of the skull presents the same appearance as Apert’s syndrome; however, with Crouzon's, there is no fusion of the fingers and toes.

Patients with Crouzon syndrome generally share many of the same physical features, although the severity will vary with each individual. The forehead grows taller instead of growing forward, because of the closure of the skull bones. Additionally, since the bones between the eyes and upper teeth are smaller than normal, those affected by Crouzon syndrome seem to have big, bulging eyes. A curved parrot-like nose is also a dominate trait in this condition.

Patients affected by this disease typically have normal intelligence, although some mental delay is possible. Breathing difficulties and abnormal speech patterns are common because of the smaller nose that is present. A cleft palate is sometimes connected to Crouzon syndrome, and can cause hearing problems due to frequent ear infections.

Like most other syndromal craniosynostosis, Crouzon syndrome is believed to be caused by a gene deviation. This is both an extremely rare and scattered event. Crouzon patients have a 50% chance of passing the disorder onto their children. If both parents are unaffected by the disease, however, the chance of development in other children is very small.

A physical examination is most commonly used to diagnose Crouzon syndrome, since it is present at birth. Computed tomography (CT) scans, magnetic resonance imaging (MRI), and x-rays are also helpful diagnostic tools. Further ophthalmologic, audiologic, and psychological testing may additionally be used.

Crouzon syndrome treatment is extensive and complex, and is best provided by an experienced craniofacial team at one of several major health centers worldwide. The typical treatment plan for this disease involves multiple staged surgeries. It is recommended that in the first year of life, the synostotic sutures of the skull are released to allow for proper brain growth. As the child matures, skull reshaping is often performed to give optimal results.

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