Serpentine fibula-polycystic kidney syndrome

Serpentine fibula-polycystic kidney syndrome is a rare genetic disorder characterized by abnormalities in the fibula, polycystic kidney disease, and other varied symptoms. The syndrome is extremely rare, with less than 30 cases reported worldwide.

Symptoms and Signs

The most distinctive feature of Serpentine fibula-polycystic kidney syndrome is the abnormal shape of the fibula. The fibula in affected individuals is unusually long, thin, and twisted, resembling a serpent. This can lead to various orthopedic problems, including difficulty walking and frequent fractures.

Another major feature of the syndrome is polycystic kidney disease. This condition is characterized by the development of numerous cysts in the kidneys, which can lead to kidney failure.

Additional symptoms can vary widely among affected individuals. These may include intellectual disability, seizures, hearing loss, and abnormalities in the shape of the skull.

Causes

Serpentine fibula-polycystic kidney syndrome is caused by mutations in a gene. The exact gene responsible has not been identified, but it is believed to be an autosomal dominant trait, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of Serpentine fibula-polycystic kidney syndrome is based on the distinctive physical characteristics, particularly the serpentine fibula and polycystic kidneys. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for Serpentine fibula-polycystic kidney syndrome is symptomatic and supportive. This may include orthopedic interventions for the fibula abnormalities, dialysis or kidney transplant for kidney failure, and various therapies for the additional symptoms.

See also

• Genetic disorder
• Fibula
• Polycystic kidney disease

Serpentine fibula-polycystic kidney syndrome Resources
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