Apert Syndrome | Testing & Diagnosis

How 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.

If Apert syndrome is suspected during pregnancy, your doctor may prescribe genetic testing to confirm the diagnosis.

After your child is born, a craniofacial surgeon, geneticist and hand surgeon will evaluate your child. Their evaluation may include:

  • X-rays
  • computed tomography (CT) scan
  • Genetic testing, using a sample of blood or saliva