Jackson-Weiss Syndrome

Jackson-Weiss syndrome is a genetic disorder caused by mutations in the FGFR2 gene on chromosome 10. It causes distinctive birth defects of the head, face, and feet. It is not known how often Jackson-Weiss syndrome occurs, but some individuals are the first in their families to have the disorder, while others inherit the genetic mutation in an autosomal dominant manner.

At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together (fuse) too early. This is called "craniosynostosis." This causes:

• Misshapen skull
• Widely spaced eyes
• Bulging forehead
• Unusually flat, underdeveloped middle area of the face (midface hypoplasia)

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

• The big toes are short and wide
• The big toes also bend away from the other toes
• The bones of some toes may be fused together (called "syndactyly") or abnormally shaped

Individuals with Jackson-Weiss syndrome usually have normal hands, normal intelligence, and a normal lifespan.

Diagnosis of Jackson-Weiss syndrome is based on the birth defects present. There are other syndromes that include craniosynostoses, such as Crouzon syndrome or Apert syndrome, but the foot abnormalities help distinguish Jackson-Weiss syndrome. If there is doubt, a genetic test could be done to help confirm the diagnosis.

Some of the birth defects present in Jackson-Weiss syndrome can be corrected or lessened by surgery. Treatment of craniosynostosis and facial abnormalities is usually treated by doctors and therapists who specialize in head and neck disorders (craniofacial specialists). These teams of specialists often work in a special craniofacial center or clinic. The National Craniofacial Association has contact information for craniofacial medical teams and also provides financial support for nonmedical expenses of individuals traveling to a center for treatment.