What is CHARGE Syndrome

CHARGE Syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by a unique combination of features, including coloboma (a malformation of the eye), heart defects, atresia choanae (blockage of the nasal passages), retardation of growth and development, genital and urinary abnormalities, and ear abnormalities causing hearing loss.

Individuals with CHARGE Syndrome may also experience cleft lip and palate, tracheoesophageal fistula (an abnormal connection between the esophagus and trachea), feeding difficulties, balance and coordination issues, and cognitive challenges. The severity and combination of symptoms can vary widely among affected individuals.

CHARGE Syndrome is caused by mutations in the CHD7 gene, which plays a crucial role in embryonic development. It is typically diagnosed based on the presence of major and minor criteria outlined by medical professionals.

Management of CHARGE Syndrome involves a multidisciplinary approach, addressing the specific needs of each individual. Early intervention, specialized medical care, educational support, and therapies can help improve outcomes and quality of life for those with CHARGE Syndrome.