Apert syndrome is a disorder that causes physical abnormalities in the hands, feet, and head. The bones of the hands and feet typically fuse together. People with Apert Syndrome also exhibit craniosynostosis, a condition that causes the bones in the skull to fuse prematurely. This leads to a misshapen head and can lead to developmental delay. Apert Syndrome varies widely in severity, with developmental delay occurring in some, but not all, people with it.
Symptoms of Apert syndrome may include:
Apert syndrome can affect almost every organ system, but it’s important to remember that how it manifests in one person will not look the same in another person.
A genetic mutation causes Apert syndrome. Specifically, a mutation on the fibroblast growth receptor 2 gene (FGR-2). In almost every case of Apert syndrome, there is a mutation on this gene. It is not a mutation that is passed down, it randomly occurs in children with Apert syndrome. The mutations related to Apert syndrome cause communication failures in the body between proteins that prompt correct growth and the receptors that should get the message – receptors that are the product of the FGR-2 gene. These receptors are not functioning as they should, causing improperly timed growth and a lack of full development.
The only risk factor for Apert syndrome is having a parent with a mutated FGR-2 gene. In rare cases, people with Apert syndrome have children. Those children have a 50% chance of being born with Apert syndrome.
Diagnosis of Apert syndrome is usually made right after birth or in the first few weeks of life. A physical examination coupled with genetic testing would confirm a diagnosis of Apert syndrome.
Complications of Apert syndrome include an increase in pressure in the brain, which can be life-threatening, vision impairment, respiratory issues, spinal cord injuries, and chronic lung disease.
Apert syndrome requires a team-based approach to treatment, with paediatricians, neurologists, cardiologists, and any other needed specialists coordinating a care plan. Therapy aims to be supportive and treat any symptoms. Initial treatments include correcting craniosynostosis, reducing any pressure in the brain by removing excess fluid or placing a tube, plastic surgery to correct malformations of the hands and feet, and medication for any heart issues.
Therapeutic intervention is considered important to help children with Apert engage actively with the world. This includes physical therapy, occupational therapy, and one-on-one educational services.
Genetic counselling, support groups, and therapy are recommended for the family. Genetic counselling can help parents and siblings better understand the causes of Apert syndrome. Support groups for parents of children with Apert syndrome and other related disorders are considered highly beneficial for a sense of community support and emotional well-being. Regularly seeing a mental health professional can have the same effect.