Cantu Syndrome: A Poorly Understood Multi-Organ Disorder

Cantu syndrome (CS) comprises a group of rare multisystem and multi-organ diseases characterized by congenital hypertrichosis, facial dysmorphism, cardiomegaly, and skeletal abnormalities, as well as other clinical manifestations. The current understanding of CS is limited. It is easy to misdiagnose it due to its diverse clinical manifestations and a lack of awareness of the condition. Currently, it is thought that this disorder is inherited in an autosomal dominant manner and caused by mutations in the ATP-sensitive potassium (KATP) channel, which plays a vital role in both cardiovascular diseases and diabetes. There are currently no effective or specific treatments for CS, and there is a lack of research on the mechanisms of and therapy for this disease. Therefore, it is essential to raise awareness and educate people on CS. Herein, we summarize reported knowledge about CS, including its epidemiology, definition, clinical features, diagnosis, and treatment.