In Crouzon syndrome, the boundaries that join the bones of the skull (sutures) to close earlier than they typically do. The premature closure results in an unusually-shaped skull and abnormal facial features.
Crouzon syndrome primarily involves the musculoskeletal system of the body, which includes bones, muscles, joints, and cartilage. Infants with the condition may have physical features that are underdeveloped or otherwise atypical in size.
If the physical effects of the condition lead to cognitive deficits, they are generally reversible with surgery (for example, to relieve pressure on the brain). Children with Crouzon syndrome usually have normal cognitive development.
However, children born with the condition can also have other genetic or developmental conditions that affect cognition and intellect.
Symptoms
Crouzon syndrome’s features are mainly physical and affect an infant or child’s appearance. The most common features of the condition include:
Abnormally shaped face High forehead Small nose Low-set ears Underdeveloped jaw, nose, ears, and teeth Eyes that point in different directions (strabismus)
These under-developed structures can cause symptoms and lead to other health problems for children with Crouzon syndrome. For example, they may experience hearing loss, trouble breathing, vision changes, and dental problems. As long as they are identified, most of these issues can be treated.
A less common symptom of Crouzon syndrome is a cleft palate or cleft lip, an opening in the roof of the mouth or lips. A cleft lip can contribute to sleep apnea, vision problems, breathing difficulties, and pressure on the brain.
Children with Crouzon syndrome usually have an average life expectancy as long as any complications from the condition are treated.
Causes
Genetic conditions can’t be prevented, but the risk of passing a specific gene on to a child depends on how it’s inherited.
Crouzon syndrome is a genetic disease caused by a mutation in a gene called FGFR2. This gene controls the production of proteins that dictate the growth and development of bones.
Crouzon syndrome is passed through an autosomal dominant pattern. If a person has the gene, there’s a 50% chance they will pass it on to a child.
However, children can also have genetic disorders even if a gene doesn’t run in their family (a de novo mutation). In about half of the cases, the child is the first in their family to be born with Crouzon syndrome.
While it’s considered a rare disease overall, Crouzon syndrome is the most common genetic disorder affecting the bones of the skull.
Diagnosis
The physical characteristics of Crouzon syndrome may be apparent at birth or within the first year of life. Symptoms may not develop until the age of two or three.
If a doctor suspects Crouzon syndrome, they will start by doing a complete physical examination and review the child’s medical history.
X-rays, magnetic resonance imaging (MRI), and computed tomography (CT) scans can give doctors a closer look at an infant’s bone growth and help them assess the progression of the disease.
Genetic testing may also be used to confirm a diagnosis of Crouzon syndrome.
Treatment
Children with Crouzon syndrome may need surgery to reduce symptoms, prevent complications, and improve their quality of life. When severe, fused skull bones can cause brain damage. These cases require brain surgery to relieve pressure and prevent further injury.
Surgery is also common for an infant with potentially life-threatening symptoms of Crouzon syndrome, such as brain pressure or breathing issues.
Clinical and rare disease researchers are investigating potential genetic treatments for Crouzon syndrome, but these studies have yet to reach human trials.
Coping
The strategies for coping with Crouzon syndrome are similar to those for living with other genetic disorders. Families first need to identify and address the health issues related to the condition that will have the greatest impact on a child’s quality of life.
Rehabilitative therapies like speech, occupational, and physical therapy can be utilized to maximize a child’s safety, development, and functioning.
Speech therapy can help a child learn to swallow safely, as well as improve speech and breathing.
Occupational therapy addresses a child’s issues with feeding, dressing, regulating emotions, handwriting, or other self-care tasks.
If a child has gross motor deficits such as difficulty walking, standing, crawling, or changing positions, physical therapy can be beneficial. These therapies can help a child with Crouzon syndrome reach developmental milestones.
However, it’s not just physical health and functioning that needs to be addressed. Children with Crouzon syndrome also need support for their mental health and wellbeing. A child who is struggling with their diagnosis is at risk for impaired social and emotional functioning.
Support groups, case managers, social workers, and respite care services can help families care for a child with Crouzon syndrome. These resources often include advocacy efforts and access to resources that can help you manage your child’s care.
A Word From Verywell
While Crouzon syndrome doesn’t directly affect a child’s emotional or cognitive development, general health, or longevity, these areas may be indirectly impacted by symptoms and complications of the condition. A child’s experience with the diagnosis and their ability to cope will also influence their quality of life.
Speech, occupational, and physical therapy are essential resources for children with Crouzon syndrome, as these therapies help them reach developmental milestones.
Some children with Crouzon syndrome also have other genetic conditions and may need specialized services or behavioral therapy. Families with concerns about a child’s behaviors or ability to cope may want to discuss specialized services with their doctor.
Regardless of their specific needs, every child with Crouzon syndrome will benefit from a treatment plan that addresses both their physical and emotional wellbeing.
