Pfeiffer

Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.

Signs and Symptoms

The signs and symptoms of Pfeiffer syndrome can vary widely among affected individuals. The most common features include craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly (webbing) of the fingers and toes. Other features can include more severe hand and foot abnormalities, hearing loss, and developmental delay.

Causes

Pfeiffer syndrome is caused by mutations in the FGFR1 or FGFR2 genes. These genes provide instructions for making proteins that are involved in the development and maintenance of bone and brain tissue. Mutations in these genes lead to the premature fusion of bones in the skull, hands, and feet.

Diagnosis

Diagnosis of Pfeiffer syndrome is based on a clinical examination and confirmed by genetic testing. The specific physical features (such as craniosynostosis and hand and foot abnormalities) can often suggest the diagnosis.

Treatment

Treatment of Pfeiffer syndrome often involves surgery to prevent complications from craniosynostosis. Other treatments are symptomatic and supportive.

See also

• Craniosynostosis
• FGFR1
• FGFR2

References

Pfeiffer Resources
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