Jackson-Weiss Syndrome

Jackson-Weiss disorder (JWS) is an uncommon hereditary disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in a few patients craniosynostosis with facial anomalies. Hands are normal in affected patients. This hereditary disorder can too in some cases cause mental inability and crossed eyes.

Causes

Mutations within the FGFR2 gene cause Jackson-Weiss disorder. This gene gives instructions for making a protein called fibroblast growth factor receptor 2. Among its different functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a particular portion of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the untimely combination of cranium bones and influences the development of bones within the feet.

Signs/symptoms

At birth, the bones of the cranium are not joined together; they close up as the child develops. In Jackson-Weiss disorder, the cranium bones connect together (fuse) as well early. This is called "craniosynostosis." This causes:
1. Misshapen skull
2.Widely spaced eyes
3.Bulging forehead
4.The unusually flat, underdeveloped middle area of the face (midface hypoplasia)

Another distinctive group of birth defects in Jackson-Weiss disorder is on the feet:

1. The big toes are short and wide
2. The big toes also bend away from the other toes
3. The bones of some toes may be fused together (called "syndactyly") or abnormally shaped
4. Individuals with Jackson-Weiss syndrome usually have normal hands, normal intelligence, and a normal lifespan.

Diagnosis

Diagnosis of Jackson-Weiss disorder is based on the birth defects present. There are other disorders that include craniosynostoses, such as Crouzon disorder or Apert disorder, but the foot abnormalities help distinguish Jackson-Weiss disorder. If there's a question, a genetic test might be done to help confirm the conclusion. The determination of Jackson–Weiss disorder in a person suspected of having the condition is done by means of the following:
1. Genetic testing
2. Clinical presentation

Treatment

A few of the birth defects display in Jackson-Weiss disorder can be adjusted or reduced by surgery. Treatment of craniosynostosis and facial anomalies is usually treated by specialists and therapists who specialize in head and neck disorders. Treatment for Jackson–Weiss disorder can be done through surgery for a few facial features and feet.  Secondary complications such as hydrocephalus or cognitive impairment can be deflected by means of prompt surgery.