AAS is a disorder characterized by facial, genital and skeletal anomalies. Affected individuals often suffer from developmental delay, short stature, hypertelorism, shawl scrotum, and brachydactyly. Other variable facial features may include a widow’s peak in their hairline, a small, short nose with a wide nasal bridge and anteverted nostrils, a round face, ptosis and slanted eyes, a wide philtrum and ears that fold down at the top. Skeletal anomalies consist of short, broad hands and feet, clinodactyly, mild syndactyly, single transverse palmar crease, finger joint hyperextensibility, cervical spine hypermobility, odontoid hypoplasia, and scoliosis. Patients also exhibit delayed puberty, hyperactivity and attention deficit disorder.
AAS is a rare condition with an unknown rate of incidence. As an X-linked recessive disorder, it affects more males than females. The prognosis of AAS is positive and postpubertal males may only have minor remnants of the prepubertal phenotype. Patients may also have mild degrees of mental slowness and reduced fertility. The disorder has a highly variable presentation and symptoms often overlap with other conditions. Hence genetic testing of the FGD1 gene can help confirm the diagnosis of AAS. There is currently no cure for the disorder and treatment is limited to supportive and symptomatic management. Patients may require orthodontic treatment for misaligned teeth, hernia repair surgery or orchidopexy for undescended testicles.