Cohen Syndrome is a rare genetic disorder that affects multiple body systems. It is characterized by a combination of physical, intellectual, and developmental abnormalities. Individuals with Cohen Syndrome typically have distinct facial features, including a prominent forehead, thick eyebrows, and a pointed chin.
One of the key features of Cohen Syndrome is ocular involvement, which can include nearsightedness, progressive vision loss, and a sensitivity to light. Additionally, individuals may experience low muscle tone (hypotonia) and delayed motor skills development.
Cognitive impairment is another common aspect of Cohen Syndrome, with individuals often experiencing learning difficulties and intellectual disabilities. They may also exhibit behavioral problems such as hyperactivity, attention deficits, and social anxiety.
Other potential features of Cohen Syndrome include joint hypermobility, obesity, small hands and feet, and hypogonadism (underdeveloped or absent sex organs).
Due to the wide range of symptoms and their varying severity, management of Cohen Syndrome involves a multidisciplinary approach. This may include regular medical evaluations, vision and hearing assessments, physical and occupational therapy, educational support, and genetic counseling.