Crouzonodermoskeletal syndrome

Crouzonodermoskeletal syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), distinctive facial features, skin abnormalities, and musculoskeletal abnormalities.

Signs and Symptoms

The signs and symptoms of Crouzonodermoskeletal syndrome can vary widely among affected individuals. The most common features include craniosynostosis, which can lead to an abnormally shaped head and distinctive facial features such as wide-set, bulging eyes and a beaked nose. Skin abnormalities can include thick, rough skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), as well as patches of dark, velvety skin (acanthosis nigricans). Musculoskeletal abnormalities can include fusion of the spinal bones (vertebrae), abnormal curvature of the spine (scoliosis), and abnormalities of the hands and feet.

Causes

Crouzonodermoskeletal syndrome is caused by mutations in the FGFR2 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in the FGFR2 gene lead to abnormal protein function, which disrupts normal bone development and leads to the features of Crouzonodermoskeletal syndrome.

Diagnosis

Diagnosis of Crouzonodermoskeletal syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

Treatment of Crouzonodermoskeletal syndrome is focused on managing the specific symptoms present in each individual. This can include surgery to correct craniosynostosis, treatment for skin abnormalities, and physical therapy for musculoskeletal abnormalities.

See Also

• Craniosynostosis
• FGFR2
• Genetic Disorders
• Acanthosis Nigricans
• Palmoplantar Keratoderma

References

Crouzonodermoskeletal syndrome Resources
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