Cantu Syndrome

Cantu syndrome is a rare genetic disorder characterized by congenital hypertrichosis, distinctive facial features, skeletal overgrowth, and cardiovascular abnormalities such as cardiomegaly and vascular dilation. Caused most often by variants in the ABCC9 or KCNJ8 genes, it presents in infancy or early childhood and requires multidisciplinary management across cardiac, musculoskeletal, and developmental domains.