Apert Syndrome is a rare genetic disorder that affects craniofacial and limb development.
Apert Syndrome, also known as acrocephalosyndactyly type I, is a congenital disorder characterized by abnormalities in craniofacial and limb development. Diagnosing Apert Syndrome typically involves a combination of clinical evaluation, imaging studies (such as X-rays and CT scans), and genetic testing to identify mutations in the FGFR2 gene. Early diagnosis is important for implementing appropriate interventions and management strategies.
Causes:
Apert Syndrome is caused by mutations in the FGFR2 gene, which play a crucial role in regulating the growth and development of bones and tissues in the body. The mutations are typically spontaneous (de novo) mutations that occur during fetal development. These mutations result in the abnormal fusion of certain skull bones (craniosynostosis) and the fusion of fingers and toes (syndactyly).
Symptoms:
The symptoms of Apert Syndrome can vary in severity from person to person, but common features may include:
Craniosynostosis: Premature fusion of skull bones, leading to an abnormal head shape (towering forehead, flattened back of the head).
Syndactyly: Fusion of fingers and toes, often described as "mitten hands" and "sock feet."
Midface hypoplasia: Underdevelopment of the midface, causing a flattened appearance.
Dental abnormalities: Crowded teeth, high arched palate, and other dental issues.
Vision and hearing problems: Due to the shape of the skull and associated abnormalities.
Respiratory and feeding difficulties: In severe cases, particularly in infancy.
Intellectual disability: Some individuals with Apert Syndrome may have developmental delays or intellectual disability, though intelligence varies widely.
Treatment Options:
Craniofacial surgery: To correct craniosynostosis and midface hypoplasia, improve facial appearance, and alleviate pressure on the brain.
Orthodontic treatment: To address dental abnormalities and malocclusion.
Hand and foot surgery: To separate fused fingers and toes and improve hand function and appearance.
Speech therapy: To address speech and language difficulties that may arise due to craniofacial abnormalities.
Ongoing medical management: To monitor and address vision, hearing, respiratory, and feeding issues as needed.
Apert syndrome is a lifelong condition with no definite cure. However, there are many surgeries to aid in the release of pressure to the brain and reconstructive surgery that all occur soon after the baby is born. Close follow-up with multiple specialists is necessary and recommended for the baby. Those with Apert syndrome who survive past childhood and don't have heart problems likely have a normal or near-normal life expectancy. Life expectancy is ever improving due to advances in surgical techniques and follow-up care