What Causes Apert Syndrome?

What Causes Apert Syndrome?

Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder that causes fusion of the skull, hands, and feet bones. It is characterized by deformities in the skull, face, feet, and limbs. Apert syndrome is rare, occurring in 1 out of every 65,000 to 88,000 births. Children with Apert syndrome often experience syndactyly, or webbing of the hands and feet, and may have a cleft palate, recurring ear infections, vision problems, and other deformities or physical limitations due to the syndrome. The Special Olympics Arizona team is breaking down this genetic disorder: what causes Apert syndrome, how common it is, and cures or treatments for the syndrome.

What Causes Apert Syndrome?

The exact cause of Apert syndrome is not known, but geneticists believe it may be due to a mutation in a gene called fibroblast growth factor receptor 2, or FGFR2. The mutation that causes Apert syndrome will occur early in pregnancy. FGFR2 plays an important role in the formation of the bones, so a mutation in the gene during pregnancy will affect how the bones are formed, causing craniosynostosis, a birth defect in which one or more of the joints in a baby’s skull close prematurely, or syndactyly, which is a birth defect that results in webbed or conjoined fingers and/or toes. Apert syndrome can be inherited, or it can be a mutation in a baby with no familial history.

How Common Is Apert Syndrome?

Apert syndrome is rare, occurring in only around 1 in every 65,000 to 88,000 births.

Is Apert Syndrome Inherited?

Apert syndrome is inherited as an autosomal dominant pattern, meaning that only one copy of the altered gene is necessary to be present to cause this disorder. Nearly all cases of Apert syndrome result from new mutations in the gene that are mutated during early pregnancy or in the reproductive genes of the parents. These cases occur in individuals with no family history of Apert syndrome. Apert syndrome can be inherited from a parent, and an individual with Apert syndrome has a 50% chance that their child will be born with the syndrome.

Can Apert Syndrome Be Prevented?

Apert syndrome is commonly a random genetic mutation that occurs early in pregnancy. It cannot be prevented, and there are very few factors linking parental behavior, age, or other factors to the development of a baby with Apert syndrome. If a parent had a child with Apert syndrome previously, they may work with a genetic counselor to discuss the risks of having another child with Apert syndrome. An individual with Apert syndrome has a 50% chance of their child developing Apert syndrome.

Is There a Cure for Apert Syndrome?

There is no known cure for Apert syndrome, but there are a variety of treatments to alleviate physical ailments and help a child with Apert syndrome live a normal life. Treatment options for children with Apert syndrome vary depending on the symptoms the individual is experiencing. Treatments may require a team of pediatricians and surgeons, as well as specialists such as hearing specialists and neurosurgeons. Other specialists include doctors who specialize in disorders of the skeleton, joints, and muscles, or orthopedists; doctors who specialize in disorders of the ear, nose, and throat, or otolaryngologists; and doctors who specialize in heart abnormalities, or cardiologists. Treatments may include corrective surgeries to correct craniofacial abnormalities or correct syndactyly or polydactyly. Through early intervention, special services can be offered to children, such as physical therapy, occupational therapy, and special education. Psychosocial therapy may benefit the child and the family over time. Other treatments may include eye treatments such as eye drops, which help prevent the dangerous eye drying that Apert syndrome can cause, CPAP machines to help children with obstructive sleep apnea sleep at night, and antibiotics to help children who are prone to sinus and ear infections cope. Affected individuals and families may benefit from genetic counseling to learn more about the causes and chances of having another child with Apert syndrome.

What is the Prognosis for Apert Syndrome?

How early intervention takes place is one of the predicting factors for how an individual with Apert syndrome will develop in the future. The earlier an intervention takes place and the earlier any cranial pressure relieving surgeries are performed, the more likely it is that a child with Apert syndrome will achieve a normal intelligence quotient. About 4 out of every 10 children with Apert syndrome who are raised in a healthy family environment will achieve a normal intelligence quotient. Children with Apert syndrome who achieve a normal intelligence quotient do not tend to have behavioral or emotional problems, but some do require additional support to cope with their condition. Children with Apert syndrome who do not achieve a normal intelligence quotient tend to have behavioral and emotional problems. There can be a wide range of symptoms between individuals with Apert syndrome, with some having very mild effects and others seeing very extreme effects.