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Apert Syndrome: Life Expectancy, Symptoms & Treatment

Instructor: Brenda Steadham

Brenda has worked with K-12 students in life science, chemistry, and language arts. She holds a master's degree in Biological Sciences from Clemson University.

Apert syndrome is a genetic disease that can negatively affect many parts of an individual. This lesson will cover how the syndrome is transmitted, and it will review several different treatment-types available for Apert-associated symptoms.

Genetics

Imagine that you have a bicycle with one good tire full of air and one flat tire. No matter how well the air-filled tire works, the bicycle cannot be ridden. Genes, like bicycle tires, come in pairs. In a person Apert syndrome, much like the bicycle, only one gene needs to be bad to negatively affect the person.

Apert syndrome is therefore an autosomal dominant genetic disorder, meaning only one copy of a 'bad' gene, or one flat tire, is needed for the syndrome to occur. Let's do some math: a parent with Apert syndrome has a one-in-two chance of passing the syndrome on to their child. This means that if they have four children, two are expected to have the syndrome.

Strangely enough, in families without a history of Apert syndrome, a spontaneous gene mutation can occur in the Apert gene, gene FGFR2, and lead to the birth of a child with Apert syndrome. Physicians and researchers do not know how or why the spontaneous mutation happens.

Apert syndrome is an autosomal dominant genetic disorder.
Apert transmission

Early Detection

Researchers have found that as soon as 19 weeks into pregnancy, Apert syndrome can be detected via ultrasound. During an ultrasound, the cranial bones or skull bones of a fetus with Apert syndrome will appear to be fused along one or more cranial sutures (joints). Fusing, or permanently joining of the skull bones, normally takes place around the age of two.

Fused cranial joints in an ultrasound, though not 100% conclusive, is a strong indicator or sign of Apert syndrome.

Symptoms

Now let's take a closer look at the symptoms associated with Apert syndrome.

  • Cranial Stenosis - Premature fusing, also referred to as cranial stenosis, leads to deformities of the head and face. As an fetus's brain continues to grow and develop, normal joints allows for the uniform expansion of the brain. If one or more sutures prematurely fuse before the brain's growth is complete, other normal sutures help compensate the brain's growth by increasing the width between their joints. Essentially, only a part of the head grows while the others remain unchanged.

Premature fusing of two sutures (right), as indicated by blue lines, leads to abnormal skull growth.
Cranial Stenosis

  • Facial Malformations - In addition to misshapen heads, cranial stenosis can also lead to facial deformities, such as, wide-set eyes, shallow eye sockets leading to prominent 'bug' eyes, severe crowding of teeth, and malformed noses.
  • Vision Problems - Depending on the severity of eye socket malformation, an individual's vision can be affected. Mild to moderate vision distortion can occur.
  • Hearing Loss - Some individuals with Apert's suffer with hearing impairments and/or hearing loss due to persistent build up of fluids and chronic ear infections.
  • Obstructive Sleep Apnea - Malformation of facial bones can lead to breathing problems.
  • Heart Malformation - Malformed or missing valves, chambers, and septum can range from non-existent to severe.
  • Intellectual Disability - Due to restricted brain growth, an individual with Apert's may suffer delayed intellectual development and varying degrees of mental retardation.
  • Syndactyly: Fused fingers and Toes - All individuals with Apert's have varying degrees of fused fingers and toes. The degrees of fusion range from three digits on each hand and foot, to fusion of all digits of the hands and feet.

Infant with syndactyly of the fingers on the right hand.
Apert syndactyly

Treatments

Sadly, there is no cure for Apert syndrome. However, there are several palliative treatments that help alleviate symptoms of the syndrome. Palliative treatments, or therapeutic treatments, help lesson symptoms without curing the underlying cause of the disease. In Apert syndrome, treatment is specialized to the individual's needs.

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