An Overview of Crouzon Syndrome

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Crouzon syndrome is a genetic condition which causes the sutures of the head to close earlier than normal. Sutures are boundaries which join the different bones of the skull. This early closure often leads to an unusually-shaped skull, which often causes some abnormal facial features. Crouzon syndrome produces a type of craniosynostosis, which is a group of conditions which impacts the development of the skull. Crouzon syndrome causes some features may be underdeveloped, other features may be of a different size than is typical.

With treatment for any complications, people with Crouzon syndrome usually have a healthy life with normal life expectancy. This genetic condition only affects the physical development of children and does not cause cognitive deficits. However, a child who is born with Crouzon syndrome may also have other genetic or developmental conditions which impact cognition and intellect.

This disorder affects the musculoskeletal system of the body, which consists of bones, muscles, joints, and cartilage. Crouzon syndrome was named after a neurologist Louis Edouard Octave Crouzon, who extensively researched genetic and neurological diseases.

Symptoms

Symptoms associated with Crouzon syndrome include an abnormally shaped face, high forehead, eyes pointing in different directions (called strabismus), a small nose, an underdeveloped jaw, nose, ears, and teeth, and low-set ears. Infants with Crouzon syndrome may experience hearing loss, breathing difficulties, vision changes, and dental problems as a result of these under-developed structures.

A less common symptom of Crouzon syndrome is a cleft palate or cleft lip which appears as an opening in the roof of the mouth or lips. These symptoms may cause issues such as sleep apnea, vision problems, breathing difficulties, and pressure on the brain.

Causes

Crouzon syndrome is a genetic disease and is not able to be prevented. It is caused by a mutation in the gene called FGFR2, which controls the production of proteins that dictate the growth and development of bones.

Someone who has Crouzon syndrome has a 50% chance of passing this condition down to their offspring. However, it is also possible for someone to be the first in their family to develop Crouzon syndrome, in an instance called a de novo mutation.

Crouzon syndrome is considered a rare disease, however, it is diagnosed in 16 per 1 million newborns. Of all the genetic disorders affecting the bones of the skull, Crouzon syndrome is the most common.

Diagnosis

The symptoms of Crouzon syndrome are typically able to be identified shortly after birth up until 1 year of age. However, there are some symptoms which do not develop until a child is 2 or 3 years old.

Doctors who suspect Crouzon syndrome in an infant will complete a thorough physical examination and medical history. These will be supplemented by diagnostic tests including X-rays, magnetic resonance imaging (MRI), computed tomography (CT) scans, and genetic testing. These allow doctors to get a closer look at bone growth and progression of the disease.

Treatment

Children with Crouzon syndrome often undergo surgery to prevent complications and improve quality of life. In some cases, fused skull bones may cause brain damage. These cases require brain surgery to relieve pressure and prevent further injury. Surgery is also a common option for infants with breathing problems. If an infant receives adequate treatment for potentially life-threatening symptoms of Crouzon syndrome such as brain pressure or breathing issues, he or she will live a full life.

Efforts are being made to study genetic treatments to prevent Crouzon syndrome. However, minimal gains have been made and testing has not reached humans at this time.

Coping

Coping with Crouzon syndrome is much the same as with other genetic disorders. It is important to address issues which have the highest potential of impacting quality of life. Emotional and social health and functioning may be impacted if a child has difficulty properly coping with their diagnosis. It is important to ensure rehabilitative therapies such as speech therapy, occupational therapy, and physical therapy are utilized to maximize the infant’s function.

Speech therapy will assist a child in safely swallowing, speaking, and breathing, if these structures have been impacted by Crouzon syndrome. If a child has difficulty feeding, dressing, regulating emotions, handwriting, or other self-care tasks, occupational therapy will assist with these deficits.

Physical therapy may also be of help for infants with gross motor deficits such as difficulty walking, standing, crawling, or changing positions. These therapies promote function and wellness which are expected to assist a child in reaching developmental milestones.

Resources such as support groups, care managers, social workers, and respite care services may assist with caring for your child. These resources also assist with advocacy efforts and may allow you to access resources to assist with your child’s care.

A Word From Verywell

Crouzon syndrome does not directly affect emotional or cognitive development, general health, or longevity. However, these areas may be indirectly impacted by your child’s reaction to this condition or complications of Crouzon syndrome. If you have more specific concerns regarding your child’s behaviors or ability to cope, you should consult your doctor. Your child may need more specific services to rule out other conditions or cope with potential brain injury. Services such as a neurologist or behavioral therapist may help your child’s condition.

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