Crouzon syndrome

Symptoms

When is craniosynostosis usually seen in Crouzon syndrome?

In Crouzon syndrome, craniosynostosis is usually evident during the first year of life and progresses until about 2-3 years of age. In some cases, craniosynostosis is seen at birth. In some cases, craniosynostosis is not noticed until childhood.

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What facial differences can be seen in Crouzon syndrome?

What eye differences can be seen in Crouzon syndrome?

What dental problems can be seen in Crouzon syndrome?

What hearing differences can be seen in people with Crouzon syndrome?

Are there other less frequent medical concerns that can be seen in Crouzon syndrome?

What facial differences can be seen in Crouzon syndrome?

Facial differences typically seen in Crouzon syndrome include widely-spaced eyes (hypertelorism), shallow eye sockets, protusion or bulging of the eyeballs (exophthalmos), eyes that do not look in exactly the same direction at the same time (external strabismus), a beak-like nose, a short upper lip, and an underdeveloped jaw (hypoplastic maxilla) that faces more forward (mandibular prognathism).These facial differences are due to the early fusion of the skull bones.

What eye differences can be seen in Crouzon syndrome?

Commonly seen eye differences in Crouzon syndrome include widely-spaced eyes (hypertelorism), eyes that do not look in exactly the same direction at the same time (external strabismus), bulging eyes, and poor vision. Poor vision is seen in about 50% of people with Crouzon syndrome. Less commonly seen eye differences include degeneration of the optic nerves, rapid recurring movements of the eyes that one cannot control (nystagmus), clouding of the lenses of the eyes (cataracts), and a hole in the colored part of the eye (iris coloboma). Blindness is seen in about 7% of people with Crouzon syndrome.

What dental problems can be seen in Crouzon syndrome?

Because most people with Crouzon syndrome have an underdeveloped upper jaw, dental problems occur. Dental problems include crowding of the front teeth of the upper jaw and abnormal alignment of the upper and lower teeth.

What hearing differences can be seen in people with Crouzon syndrome?

Some people with Crouzon syndrome have hearing loss. Hearing loss can either be sensorineural, conductive, or mixed. Some individuals affected with Crouzon syndrome have narrow ear canals.

Are there other less frequent medical concerns that can be seen in Crouzon syndrome?

There are other medical concerns that are less common in Crouzon syndrome. These included an opening in the lip and roof of the mouth (cleft lip and palate), headaches, seizures, and accumulation of fluid in the brain that causes the head to enlarge (hydrocephalus). About 3% of people with Crouzon syndrome have intellectual disability. Some people have skeletal features such as fusion of some bones in the spine in the neck, and stiffness in the elbows. Sometimes, radiographic metacarpal-phalangeal (hand and finger) profile may reveal shortening although this cannot usually be noticed by the naked eye.

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