Andersen's syndrome
Andersen's syndrome is a rare genetic disorder characterized by a combination of heart defects, skeletal abnormalities, and developmental delays. It is caused by mutations in the KCNJ2 gene, which plays a crucial role in regulating electrical activity in the heart and muscles. Individuals with this syndrome may experience arrhythmias, which can lead to serious health complications.
In addition to cardiac issues, people with Andersen's syndrome often have distinctive physical features, such as a broad forehead and low-set ears. The severity of symptoms can vary widely among affected individuals, making early diagnosis and management essential for improving quality of life.