Jackson-Weiss Syndrome

Jackson-Weiss Syndrome is a rare genetic disorder affecting a child’s head, facial area, and feet. The characteristics that occur include malformation in all three previously mentioned areas. It is caused by a genetic mutation within the FGFR2 gene. Characteristics of the affected areas usually occur in the head or feet. The foot abnormalities tend to be the most common with Jackson Weiss Syndrom. Those diagnosed with this disorder have a normal life span, and the syndrome is also equally diagnosed among males and females. If you or someone you know is suffering from Jackson-Weiss Syndrome, know there is a podiatrist in Port Washington that can help!

Common Symptoms of Jackson-Weiss Syndrome:

Someone who is suffering from Jackson Weiss Syndrome will likely recognize the following symptoms: 

  • Widely shaped skull
  • Misshapen eyes
  • The flat, underdeveloped middle area of the face (midface hypoplasia)
  • Distinct Foot Abnormalities
    • Short and wide big toes
    • Abnormally shaped toes 
    • The big toe bends away from other toes

Jackson-Weiss syndrome is diagnosed at birth based on the defects present at the time. It is also typically followed up by genetic testing if the initial diagnosis doesn’t give clear confirmation. 

How do you treat Jackson-Weiss Syndrome?

Unfortunately, there is not one singular treatment for this syndrome. Treatment can vary depending on the specific symptoms each patient experiences. Typically, surgery is used as a treatment when it comes to lessening or correcting birth defects caused by this syndrome. When it comes to the feet, a podiatrist in Port Washington will likely perform cosmetic surgery in an effort to eliminate any abnormalities that appeared. In some cases where mobility is affected, it may be beneficial to seek out therapy. This may include physical therapy or any other orthopedic support. Seeking out a treatment method sooner rather than later will only allow your child to reach their full potential. 

If you are dealing with foot abnormalities due to Jackson-Weiss Syndrome, Dr. Alec Hochstein is a podiatrist in Port Washington who provides a wide range of cosmetic foot care as well as surgery. Make an appointment with Great Neck Family Foot Care to help any pain, discomfort, or abnormalities due to Jackson-Weiss Syndrome today!