Accessibility Tools

What is Jackson-Weiss Syndrome?

Jackson-Weiss syndrome, also known as craniosynostosis or midfacial hypoplasia, is a rare medical disorder characterized by abnormalities in the head, facial area, and feet. This condition occurs due to an inherited genetic mutation.

Causes of Jackson-Weiss Syndrome

Jackson-Weiss syndrome is caused by a mutation in the FGFR2 gene that is responsible for the development of fetal bone tissue. This gene controls the production of a protein called fibroblast growth factor (FGF). When mutation occurs, it disrupts the protein formation during embryonic development and results in abnormalities like premature fusion of the skull and the foot bones.

Symptoms of Jackson-Weiss Syndrome

The signs and symptoms of Jackson-Weiss syndrome vary from person to person. There are multiple symptoms, but the most common include:

  • Short metatarsal bone
  • Short and wide big toes which bend away from other toes
  • Fused toe bones
  • Bulging forehead 
  • Abnormally flat midface
  • Skull deformity
  • Seizures

Diagnosis of Jackson-Weiss Syndrome

Diagnosis can be made based on the presence of the associated birth defects. Diagnostic imaging and genetic testing can also be carried out to confirm the diagnosis. These include:

  • X- rays: They are performed to identify any bone fractures or abnormalities in the feet and skull.
  • CT scan: This test uses special X-rays that produce detailed images of the internal hard and soft tissues of the skull.
  • MRI scan: This test helps identify the presence of any soft-tissue abnormalities in the head and feet.
  • Fetal ultrasound: This imaging test uses sound waves to detect any abnormalities in the fetus.
  • Molecular genetic testing: This test is done to detect any mutations present in the FGFR2 gene.

Treatment for Jackson-Weiss Syndrome

Treatment for Jackson-Weiss Syndrome is dependent on the severity of symptoms. Mild to moderate foot abnormalities may be treated with physical therapy and other conservative measures to improve mobility. Severe abnormalities can be managed through surgery. This is done during your child’s infancy to reduce the pressure on your child’s brain and increase the space within the skull so the brain can grow normally. The surgical procedures involve draining the excess cerebrospinal fluid and correcting craniofacial and foot deformities. Your doctor can also provide genetic counseling that may help you better understand the condition.