Jackson–Weiss syndrome

Autosomal dominant - en

Jackson–Weiss syndrome is a rare genetic disorder characterized by craniosynostosis, foot abnormalities, and other physical malformations. It is inherited in an autosomal dominant pattern and is caused by mutations in the FGFR2 gene.

Presentation

Individuals with Jackson–Weiss syndrome typically present with craniosynostosis, which is the premature fusion of certain skull bones. This leads to an abnormal head shape and can affect the development of the brain. Common cranial features include a prominent forehead and wide-set eyes (hypertelorism).

Foot abnormalities are another hallmark of Jackson–Weiss syndrome. These may include broad, short great toes and fusion of some of the bones in the feet (syndactyly). The hands are usually normal, which helps distinguish this syndrome from other similar conditions.

Genetics

Jackson–Weiss syndrome is caused by mutations in the FGFR2 (fibroblast growth factor receptor 2) gene, which plays a crucial role in the development and maintenance of bone and tissue. The condition follows an autosomal dominant inheritance pattern, meaning that only one copy of the altered gene is sufficient to cause the disorder.

Diagnosis

Diagnosis of Jackson–Weiss syndrome is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to confirm mutations in the FGFR2 gene. Prenatal diagnosis is possible if the mutation is known in the family.

Management

Management of Jackson–Weiss syndrome typically involves a multidisciplinary approach. Surgical intervention may be required to correct craniosynostosis and foot abnormalities. Regular monitoring and supportive care are essential to address developmental delays and other complications.

Epidemiology

Jackson–Weiss syndrome is extremely rare, with only a few cases reported in the medical literature. The exact prevalence is unknown.

See also

• Craniosynostosis
• Syndactyly
• Autosomal dominant
• FGFR2

External links

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Further reading

• List of genetic disorders
• List of rare diseases