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Apert Syndrome

Apert Syndrome

Programs that treat this condition

Craniofacial Anomalies Program

Hand Clinic

What is Apert syndrome?

Apert syndrome is a rare genetic birth disorder involving abnormal growth of the skull and the face, as well as fused fingers and toes. It can be inherited, or it may occur without a known family history.

Physical characteristics of this syndrome include:

Tall skull and high prominent forehead
Underdeveloped upper jaw
Prominent eyes - appear bulging out and may be spaced widely apart
Small nose
Fused fingers
Fused toes

Most children with Apert syndrome are of normal intelligence but mild learning difficulty occurs in some cases.

What causes Apert syndrome?

The precise cause is unknown. It is believed to be the result of genetic mutations that occur early on in the pregnancy. No known food, medication, or activity during pregnancy can cause Apert syndrome.

What are the chances of having a child with Apert syndrome?

Apert syndrome occurs is approximately one in approximately 175,000 births.

If one parent has Apert syndrome, there is a 50% chance that his/her child will be born with the disorder.

Unaffected parents who have one child with Apert syndrome rarely give birth to a second child with the condition.

What problems are associated with Apert syndrome?

In addition to the physical characteristics common to the condition, children with Apert syndrome may have the following problems:

Slower mental development due to abnormal growth of the skull
Cleft palate
Vision problems caused by imbalance of the eye muscles
Recurrent ear infections which can cause hearing loss
Difficulty breathing due to small nose and airway passages
Increased perspiration (especially when asleep) due to hyperactive sweat glands
Acne problems, especially during puberty

How is Apert syndrome diagnosed?

Since a child is born with Apert syndrome, it is usually diagnosed at birth by the physical signs. The fusions of the fingers and toes distinguish Apert syndrome from other craniofacial disorders.

If Apert syndrome is suspected in the fetus during pregnancy, genetic testing can be done to confirm the diagnosis.

How is Apert syndrome treated?

Children with Apert syndrome should be evaluated by members of an experienced interdisciplinary team. No single specialist can manage Apert syndrome and its associated problems, as treatment usually involves many areas of specialty.

Most children with Apert syndrome will require numerous operations into their adolescence and early adulthood. These may include surgeries to:

Re-shape the skull
Improve the upper airway, which may be partly blocked
Correct eye problems
Address dental problems
Separate webbed fingers or toes

What is the prognosis for children with Apert syndrome?

The prognosis varies from child to child. Early diagnosis and treatment greatly improves outcomes.


					Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School

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