Symptoms
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 skullWidely spaced eyesBulging foreheadUnusually 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 wideThe big toes also bend away from the other toesThe 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
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.
Treatment
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.
