Apert Syndrome

Apert syndrome is a rare genetic disorder that affects the development of the skull, face, and limbs. It is characterized by premature fusion of the bones in the skull, which can lead to a range of physical and developmental problems.

What is Apert Syndrome?

Apert syndrome is caused by a mutation in the FGFR2 gene, which provides instructions for making a protein called fibroblast growth factor receptor 2. This protein plays a crucial role in the development and maintenance of bone tissue. The mutation leads to abnormal bone growth and development, resulting in the characteristic features of Apert syndrome.

Symptoms of Apert Syndrome

The symptoms of Apert syndrome can vary in severity, but common features include:

• Premature fusion of the bones in the skull (craniosynostosis), which can lead to a misshapen head and facial abnormalities
• Wide-set eyes (hypertelorism) and a prominent forehead
• A flat face, with a short nose and upper jaw
• Protruding lower jaw (prognathism)
• Cleft palate or other abnormalities of the mouth and throat
• Fusion of the fingers and toes (syndactyly)
• Shortened limbs, particularly the arms
• Intellectual disability or developmental delays in some cases

Treatments for Apert Syndrome

Treatment for Apert syndrome typically involves a multidisciplinary approach, with input from specialists such as neurosurgeons, plastic surgeons, orthodontists, and physical therapists. The goals of treatment are to:

• Correct craniosynostosis and other skull abnormalities through surgery
• Improve the appearance and function of the face and jaw through surgical procedures such as midface advancement and mandibular distraction
• Separate fused fingers and toes (syndactyly release)
• Correct limb abnormalities, such as shortened arms, through surgical procedures such as limb lengthening
• Provide supportive care, including physical therapy, occupational therapy, and speech therapy, to help individuals with Apert syndrome reach their full potential

Surgical Interventions

Surgical interventions for Apert syndrome can be complex and may involve multiple procedures. Some common surgical procedures include:

• Craniosynostosis repair: This involves surgically releasing the fused bones in the skull to allow for normal brain growth and development.
• Midface advancement: This procedure involves moving the middle part of the face forward to improve the appearance and function of the face and jaw.
• Mandibular distraction: This involves using a device to gradually lengthen the lower jaw, improving the alignment of the teeth and the overall appearance of the face.
• Syndactyly release: This procedure involves surgically separating fused fingers and toes to improve hand and foot function.

Prognosis and Quality of Life

The prognosis for individuals with Apert syndrome varies depending on the severity of the condition. With proper treatment and supportive care, many people with Apert syndrome can lead active and fulfilling lives. However, some may experience ongoing health problems and developmental challenges, which can impact their quality of life.

Frequently Asked Questions (FAQs)

What is Apert syndrome?
A rare genetic disorder characterized by premature fusion of skull bones.

What are the common physical features of Apert syndrome?
Distinctive facial appearance, craniosynostosis, and fused fingers and toes.

Is Apert syndrome inherited?
Usually caused by a spontaneous mutation, but can be inherited in an autosomal dominant pattern.

How common is Apert syndrome?
Affects about 1 in 65,000 to 1 in 88,000 births.

What are the symptoms of Apert syndrome?
Craniosynostosis, midface retrusion, and limb abnormalities.

Can Apert syndrome be diagnosed prenatally?
Yes, through ultrasound and genetic testing.

How is Apert syndrome treated?
Surgery to separate fused skull bones and other corrective procedures.

What are the potential complications of Apert syndrome?
Respiratory problems, vision loss, and hearing loss.

Can people with Apert syndrome lead normal lives?
With proper treatment and care, many can lead active and productive lives.

Is there a cure for Apert syndrome?
No, but various treatments can manage symptoms and improve quality of life.