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Apert syndrome

What is Apert syndrome?

Apert (AY-pert) syndrome is a condition a baby has at birth that can cause abnormalities in the bones of the head, face and hands, and sometimes in several other areas of the body. It is a very rare disease, affecting about 1 in 65,000 babies.

It is a type of disorder called syndromic craniosynostosis (sin-DRAHM-ick crain-ee-oh-sin-us-TOE-sis). A syndrome is a group of problems that happen in different places in the body. There are several different types of syndromic craniosynostosis, but what they all have in common is abnormal growth of the skull bones while the baby is still in the womb.

Normally, a baby’s head has flexible material between the five bones that form the skull. These allow the baby’s brain to expand as the baby grows. The bones close completely sometime during the teen years. When a baby has craniosynostosis, the bones of the baby’s head fuse together much too soon and the brain doesn’t have space to grow. It pushes against the bones and causes the head to take on an abnormal shape. Click here to learn more about craniosynostosis.

The main symptoms of Apert syndrome are:

• Misshaped skull: craniosynostosis, with two or more skull bones fused prematurely
• Fingers, and sometimes toes, that are joined together, called syndactyly (sin-DACK-tuh-lee)
• A smaller than normal and sunken face, called midface retrusion (rih-TRU-zhun)

Apert syndrome can range in severity and in how many areas of the body it affects. Other things it can cause include:

• Cleft palate
• Hearing loss
• Vision problems
• Sleep apnea
• Breathing problems
• Abnormal bones in the elbow or shoulders
• Heart defects
• Dental issues
• Spine issues
• Digestive tract problems
• Structural defects in the brain
• Kidney problems
• Undescended testicles
• Learning and developmental problems

Apert syndrome has many things in common with other types of syndromic craniosynostosis. Most of these syndromes include wide-set and bulging eyes with a downward slant. The feature that allows doctors to tell it is Apert syndrome is the joined fingers and, sometimes, toes. The middle three fingers on each hand are fused; sometimes the thumb and little finger are affected.

What causes Apert syndrome?

A genetic abnormality causes Apert syndrome. It can be inherited from a parent, but those cases are extremely rare. Almost always, the abnormal gene develops during a baby’s growth in the womb. Apert syndrome affects male and female babies at the same rate. There seems to be a higher risk for the syndrome for babies of older fathers.

If the condition is not inherited from parents, the chances of other children having the syndrome are very low. In the unlikely case of it being inherited, the chance of siblings also inheriting the condition is 50%.

How is Apert syndrome diagnosed?

Doctors usually diagnose Apert syndrome at birth or during infancy. Sometimes, it can be diagnosed during prenatal tests. How a baby looks, including the shape of the head, facial features and joined fingers, can help make the diagnosis. Genetic testing can also confirm a problem with the gene that causes the syndrome.

A baby with craniosynostosis will usually have a number of tests to see if there are problems in other places in the body. Imaging of the baby’s head, such as MRIs and CT scans, will show where the bones are fused together and if there are other issues in the baby’s head or face.

Treatment for Apert syndrome

Because many different areas of the body can be affected, a team of pediatric specialists should handle the care of babies with Apert syndrome. Symptoms can be mild or severe, and every child is different.

Surgery is the treatment for craniosynostosis and syndactyly (joined fingers and toes). It is also the treatment for other problems of the bones and structures of the eyes, nose and mouth. Pediatric craniofacial plastic surgeons perform these surgeries. Other pediatric specialists are needed to care for abnormalities in other parts of the body.

Members of the care team should include:

• Craniofacial surgeons
• Pediatricians
• Neurosurgeons
• Ophthalmologists
• Dentists and dental surgeons
• Physical, occupational and speech therapists

Other specialists may be needed if other areas have problems. For example, a pediatric cardiologist may play a role if the baby has a heart defect.

Together, these specialists can help treat specific symptoms that Apert syndrome causes. Children with Apert syndrome are monitored all the way through childhood to make sure they are developing to their full potential.

Long-term outlook for Apert syndrome

Because symptoms of Apert syndrome can range so widely, from mild to severe, a child’s long-term outlook can depend on many things.

• Babies who have surgery to treat craniosynostosis before age 1 do better. This is because their brains have room to grow normally.
• Life expectancy can depend on how severe symptoms are, but good surgical options and follow-up supportive care significantly improve the outlook.
• Intellectual limitations are common, but many children with Apert syndrome have normal intelligence. Those who have a normal IQ may need social and emotional support, but they don’t ordinarily face a higher chance of behavioral or emotional problems. In fact, studies have shown they often have positive psychosocial outcomes.
• Children with lower IQs may experience behavioral and emotional issues.
• With early treatment and good supportive care as they grow, children with Apert syndrome can reach their potential.

Get help at Children’s of Mississippi

The craniofacial team at Children’s of Mississippi is experienced in all aspects of care for children with Apert syndrome. We have all the pediatric specialists needed to manage the range of symptoms that can come with Apert syndrome. You can request a consultation with our pediatric craniofacial surgeons. They will be happy to answer your questions and help you understand your options. Schedule an appointment online.

Last reviewed: March 2, 2026