Apert Syndrome
Apert Syndrome is a genetic disorder characterized by the premature fusion of certain skull bones, leading to a shaped head and facial abnormalities. This condition is caused by mutations in the FGFR2 or FGFR1 genes, which are involved in bone growth and development. Individuals with Apert Syndrome may also experience fusion of fingers and toes, known as syndactyly.
People with Apert Syndrome often require multiple surgeries to correct physical deformities and improve function. Other potential health issues include hearing loss, dental problems, and developmental delays. Early diagnosis and intervention can help manage symptoms and enhance quality of life for those affected.