Acrocephalosyndactyly, also known as Apert syndrome, is a rare genetic disorder that affects the bones of the skull, face, hands, and feet. It is characterized by premature fusion of the skull bones (craniosynostosis), leading to an abnormally shaped head and face, as well as fused fingers and toes (syndactyly).
Acrocephalosyndactyly is caused by mutations in the FGFR2 gene, which provides instructions for making a protein called fibroblast growth factor receptor 2. This protein plays a critical role in the development and maintenance of bone and other tissues in the body. Mutations in this gene disrupt the normal signaling pathways that control bone growth and remodeling, leading to the characteristic features of the disorder.
In addition to craniosynostosis and syndactyly, other features of acrocephalosyndactyly can include wide-set, bulging eyes, a beaked nose, an underdeveloped midface, dental abnormalities, hearing loss, and developmental delays. These features can vary in severity between individuals with the disorder.
Diagnosis of acrocephalosyndactyly typically involves a physical exam to evaluate the characteristic features of the disorder, as well as genetic testing to confirm the presence of mutations in the FGFR2 gene.
Treatment for acrocephalosyndactyly typically involves surgery to correct the craniosynostosis and syndactyly, as well as other interventions such as speech and occupational therapy to address developmental delays and other complications associated with the disorder.
While there is no cure for acrocephalosyndactyly, early and ongoing medical management can help to improve outcomes and quality of life for individuals with the disorder. This may involve a team of healthcare professionals including geneticists, neurologists, orthopedic surgeons, speech and occupational therapists, and other specialists as needed.