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Jackson-Weiss Syndrome

Jackson-Weiss syndrome is a genetic disorder characterized by foot and skull abnormalities, including misshapenness of the head and face. The syndrome can cause a number of additional symptoms ranging in severity from developmental delays to seizures. However, with the help of a skilled doctor, the symptoms are often manageable. Many patients are able to live relatively healthy, normal lives.

Causes of Jackson-Weiss syndrome

Jackson-Weiss syndrome is caused by a gene responsible for fetal bone tissue development. A mutation in the gene causes it to over-stimulate bone cell growth, which causes the bones to develop and grow abnormally. The syndrome is therefore hereditary in nature, although it does not necessarily appear in every generation.

Symptoms of Jackson-Weiss syndrome

Symptoms of Jackson-Weiss syndrome include foot abnormalities, craniosynostosis, and other congenital defects (defects present at birth), including those that cause blindness, seizures, and decreased intellectual capacity. 

  • Foot Abnormalities - Foot abnormalities appear to be the most consistent symptom of Jackson-Weiss syndrome. Common foot abnormalities associated with the syndrome include: 
    • Abnormally shaped toes. 
    • Short, wide big toes that bend away from the other toes. 
    • Toes with fused bones. 
  • Craniosynostosis - A congenital defect, craniosynostosis is characterized by abnormal head shape. The defect causes the tissue between a fetus's skull bone to close earlier than normal, thereby causing the skull to become misshaped. Symptoms of craniosynostosis include: 
    • Absence, or early disappearance, of the "soft spot" (fontanelle) on a newborn's skull. 
    • Developmental delays. 
    • Head and face abnormalities (i.e. unusual head shape, misshapen skull, bulging forehead, and widely spaced eyes). 
    • Increased intracranial pressure. 
    • Seizures. 
    • Slow (or nonexistent) head-size increase (over time).

Treatment of Jackson-Weiss syndrome

Typically, the symptoms of Jackson-Weiss syndrome are treated with surgery during the patient's infancy. The surgery is performed in order to: treat the feet or relieve pressure on the brain, provide room in the skull for the brain to grow, and improve the appearance of the head.

If your child is showing symptoms of Jackson-Weiss syndrome, contact your doctor to obtain the help you need. With treatment from an experienced doctor, many patients with the syndrome are able to lead healthy, happy lives.