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Jackson-Weiss syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Jackson-Weiss syndrome

Jackson-Weiss syndrome is a genetic disorder characterized by the premature fusion of skull bones and distinct foot abnormalities.

Overview

Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally, affecting the shape of the head and face.

Symptoms

  • Skull and facial features: Abnormal growth leads to a misshapen skull, a prominent forehead, and a flattened midface.
  • Foot abnormalities: The first (big) toes are short and wide and bend away from the other toes. Bones of some toes may be fused together (syndactyly) or abnormally shaped.
  • Other features: Some individuals have hearing impairment. Intelligence and life span are typically normal.

Causes & Risk Factors

Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making the fibroblast growth factor receptor 2 protein, which signals immature cells to become bone cells during embryonic development. A mutation in this gene overstimulates signaling, promoting the premature fusion of skull bones and affecting bone development in the feet.

Inheritance

This condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.

Frequently Asked Questions

Look for premature fusion of skull sutures (often presenting as a ridged or unusually shaped forehead, shallow eye sockets, or a flattened mid‑face) combined with characteristic foot anomalies such as short, broad big toes that point outward, syndactyly, or other toe malformations. The coexistence of craniosynostosis and foot abnormalities is a red flag for Jackson‑Weiss syndrome.
Cranial surgery (typically fronto‑orbital advancement or cranial vault remodeling) is performed in early childhood—often before 12 months of age—to allow normal brain growth and improve head shape. Foot reconstruction (e.g., osteotomies, tendon releases, or syndactyly separation) is usually delayed until the child is older (around 2–4 years) when the foot has grown enough for stable correction and to minimize the need for repeat procedures. Multidisciplinary planning with neurosurgery, orthopedics, and genetics is essential.
Diagnosis is confirmed by a combination of imaging and genetic testing. High‑resolution CT or MRI of the skull delineates which sutures are fused, while foot X‑rays document bone anomalies. A targeted molecular test for pathogenic variants in the FGFR2 gene (often via a blood sample) provides the definitive genetic confirmation.
Jackson‑Weiss syndrome follows an autosomal‑dominant pattern, so an affected individual has a 50 % chance of passing the FGFR2 mutation to each offspring. Prenatal diagnosis is possible: chorionic villus sampling (10–12 weeks) or amniocentesis (15–18 weeks) can obtain fetal DNA for targeted FGFR2 testing. Non‑invasive prenatal testing (NIPT) does not yet reliably detect this specific mutation. Genetic counseling is strongly recommended before conception or pregnancy.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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