Putting a Spotlight On

Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disability. Learn more below.

What is Crouzon Syndrome?

Crouzon Syndrome is is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

What are the signs/symptoms?

Symptoms include:
- a skull that appears “too tall” and overly flat from the middle part of the face upward
- small cheeks and a concave (curved inward) facial profile
- a prominent nasal bridge (a “beaked” nose)
- wide-set, bulging eyes
- crossed eyes (strabismus)
- underdeveloped upper jaw
- protruding lower jaw
- overcrowded teeth

What is Crouzon Syndrome a result of?

A specific mutation (change) in a gene called fibroblast growth factor receptor 2 causes Crouzon syndrome.

What are the complications of Crouzon Syndrome?

hearing loss
vision loss
inflammation in the front of the eyes (exposure keratitis) or in the membrane lining the whites of the eyes (exposure conjunctivitis)
drying of the clear outer covering of the eye (cornea)
fluid buildup in the brain (hydrocephalus)
sleep apnea or other breathing problems

References:

https://www.childrenshospital.org/conditions/crouzon-syndrome

https://medlineplus.gov/genetics/condition/crouzon-syndrome/

https://www.healthline.com/health/crouzon-syndrome#complications