CHARGE Syndrome is a rare genetic disorder that affects multiple systems in the body. It is estimated to occur in approximately 1 in every 10,000 to 15,000 births worldwide. The prevalence of CHARGE Syndrome varies among different populations and ethnicities.
CHARGE Syndrome is characterized by a combination of congenital anomalies, including coloboma of the eye, heart defects, choanal atresia, retardation of growth and development, genital and urinary abnormalities, and ear abnormalities with hearing loss. These features can vary in severity and may not all be present in every individual with CHARGE Syndrome.
Due to the wide range of symptoms and the variability in their presentation, diagnosing CHARGE Syndrome can be challenging. Genetic testing is often necessary to confirm the diagnosis.
Individuals with CHARGE Syndrome require multidisciplinary care and support throughout their lives. Early intervention and specialized medical management can help address the specific needs of each affected individual.
While CHARGE Syndrome is considered a rare disorder, it is important to raise awareness about its existence and provide resources for affected individuals and their families.