Serpentine fibula-polycystic kidneys syndrome

Serpentine fibula-polycystic kidneys syndrome (also known as serpentine fibula-polycystic kidney syndrome or Hajdu-Cheney-like syndrome) is an extremely rare genetic skeletal disorder characterized by the combination of unusually shaped (S-shaped or serpentine) fibulae and polycystic kidneys. The condition primarily affects the skeletal system and the kidneys. Key skeletal features include the distinctive serpentine curvature of the fibula bones in the lower legs, as well as other skeletal anomalies that may include irregular ossification, gracile or thin bones, and facial dysmorphism. Renal involvement manifests as bilateral polycystic kidneys, which can impair kidney function over time. Additional clinical features that have been reported in affected individuals include short stature, characteristic facial features, and other developmental skeletal abnormalities. The condition has been described in only a very small number of patients in the medical literature, making it one of the rarest recognized genetic syndromes. Some cases have been linked to mutations in the NOTCH2 gene, which is also associated with Hajdu-Cheney syndrome, suggesting potential overlap or allelism between these conditions. There is no specific cure or targeted therapy for serpentine fibula-polycystic kidneys syndrome. Management is supportive and symptom-based, involving orthopedic monitoring and intervention for skeletal complications, nephrology follow-up for kidney cyst progression and renal function, and multidisciplinary care to address any additional manifestations. Early detection and regular monitoring of kidney function are important to manage potential renal complications.

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