Crouzon Syndrome

Also known as: Craniofacial dysostosis

What is Crouzon syndrome?

Crouzon syndrome is a rare disorder that is present at birth. It is characterized by the seams between a baby’s soft skull bones closing early, which causes the face and eye sockets to develop incorrectly. This can cause a head that is short from front to back, a flat forehead, or a head that is taller than usual. It can also cause an underbite, eyes that appear more prominent, or eyes that are too far apart.

Complications of Crouzon syndrome may include vision, dental, hearing, or breathing problems. Intellectual disabilities are rare with Crouzon syndrome but can occur. Crouzon syndrome was first described in 1912 by Dr. Louis Edouard Octave Crouzon. This condition is also called craniofacial dysostosis (condition involving the bone of the face).

What causes Crouzon syndrome?

Most cases of this condition are caused by a change (“mutation”) in a gene called the Fibroblast Growth Factor Receptor Gene 2 or more simply FGFR2. There are some individuals with Crouzon syndrome that also have a skin condition called acanthosis nigricans and have mutations in the FGFR3 gene. Crouzon syndrome is inherited in an autosomal dominant pattern of inheritance, therefore if a person has Crouzon syndrome, his/her offspring would have a 50 percent chance of also having Crouzon syndrome.

Most individuals with Crouzon syndrome are the first cases in the family. This means that the parents of the affected child do not have Crouzon syndrome. If a child’s parents do not have Crouzon syndrome, the risk to their other pregnancies is low. However, an increased risk for Crouzon syndrome has been found in pregnancies of older fathers.

What are the symptoms of Crouzon syndrome?

The primary clinical signs of Crouzon syndrome are:

Craniosynostosis (premature closure of the sutures of the skull)
Vision problems as well as ocular proptosis (protruding eyes) caused by shallow orbits (bones surrounding the eyes)
Protruding jaw and forehead
Underdeveloped midface
Hearing loss
Normal intelligence
Difficulty breathing and dental issues are also common

What are the most recent treatments?

In 2023, several treatments and therapies are available for children with Crouzon syndrome to ensure the best outcome. Treatment for Crouzon syndrome typically begins at birth and continues throughout life.

Many children with Crouzon syndrome will require surgery. This procedure improves the appearance of the baby’s head and face, relieves pressure on the skull and provides more room for the brain to grow. However, not all babies with Crouzon syndrome require surgery.

Providing proper care for a child with Crouzon syndrome takes a team of medical specialists and continued care. Your care team at Nicklaus Children's may include the following:

A dental specialist for mouth, jaw and teeth issues
An ENT doctor to address ear, nose and throat concerns
An eye doctor for vision issues
An audiologist for hearing problems
Your pediatrician for general health concerns
A psychosocial therapist to provide mental health support
An occupational therapist to help with motor skills, visual perception, sensory processing, and more
A physical therapist to help strengthen your child’s muscle and tendons
A speech therapist to help with communication and swallowing skills

With close medical attention, the prognosis for most children with this condition is positive. Multiple surgeries and ongoing therapies are often required for these children, but most will ultimately attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, these children can grow to be healthy and happy adults.

This page was last updated on: February 07, 2024 04:28 PM

Pediatric Craniofacial Center & Clinic

The Craniofacial Center at Nicklaus Children's Hospital is one of Florida’s leading specialty centers offering comprehensive management for infants, children, and young adults with an array of craniofacial differences.

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