When Is Apert Syndrome Diagnosed?

Apert syndrome is usually diagnosed at birth by the physical signs, such as a tall skull and high, prominent forehead, underdeveloped upper jaw, prominent eyes, and fused fingers and/or toes. The fusion of the fingers and toes distinguishes Apert syndrome from other craniofacial disorders.

Can Apert syndrome be detected before birth?

Individuals may also have testing for mutations in the FGFR2 gene, which can provide a genetic diagnosis of Apert syndrome. In some instances, features of Apert syndrome may be detected before birth. This would be done through prenatal 2D or 3D ultrasound or magnetic resonance imaging (MRI).

Who can get Apert syndrome?

Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. Although parents of all ages can have a child with Apert syndrome, the risk is increased in older fathers.