Apert Syndrome, also known as acrocephalosyndactyly type 1 or ACS1, is a rare genetic disorder that affects the development of the skull, face, and limbs. It is named after the French physician Eugene Apert, who first described the condition in 1906.
Apert Syndrome is characterized by the premature fusion of certain sutures in the skull (craniosynostosis), leading to an abnormal head shape known as acrocephaly. The fusion of these sutures often affects the shape of the face as well, causing distinctive facial features such as a protruding forehead, wide-set and bulging eyes, a beaked nose, and a small jaw. Dental abnormalities, such as crowded teeth and malocclusion, are also common in individuals with Apert Syndrome.
Besides the craniofacial abnormalities, Apert Syndrome is characterized by syndactyly, the fusion of fingers or toes. The affected individuals typically have webbed or fused fingers and toes, which can impair dexterity and mobility. Additionally, other skeletal abnormalities may be present, including fusion or malformation of bones in the hands, feet, and spine.
Individuals with Apert Syndrome may also experience other health issues, including hearing loss, vision problems, and intellectual disabilities. The severity of the condition can vary widely among affected individuals, even within the same family.
Apert Syndrome is caused by mutations in the FGFR2 gene, which plays a critical role in regulating cell division and growth during development. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their offspring.
Treatment for Apert Syndrome typically involves a multidisciplinary approach, including surgical interventions to correct the craniofacial
