Cohen's Syndrome

Cohen's Syndrome is a rare genetic disorder characterized by developmental delay, distinctive facial features, moderate intellectual disability, and issues with vision and blood. Individuals may have a prominent nose, full cheeks, and a small head, along with low muscle tone and delayed growth. Eye problems often include involuntary eye movements, nearsightedness, and shared cysts. Some may also have behavior challenges, such as autism spectrum traits. The condition results from mutations in a specific gene affecting cell function, and while there’s no cure, early intervention and supportive therapies can improve quality of life.