Definition of Cohen Syndrome

Cohen Syndrome is a rare genetic disorder characterized by a combination of developmental delays, intellectual disabilities, distinctive facial features, and vision problems. It is an autosomal recessive disorder, meaning it occurs when both copies of the gene responsible for the condition are mutated.

Developmental Delays

Individuals with Cohen Syndrome often experience delays in achieving developmental milestones, such as sitting, crawling, walking, and talking. These delays can vary in severity from person to person and may affect both fine and gross motor skills.

Intellectual Disabilities

Intellectual disabilities are a common feature of Cohen Syndrome. Individuals affected by the condition typically have below-average intellectual functioning and may face challenges in areas such as learning, problem-solving, and abstract thinking.

Distinctive Facial Features

One characteristic feature of Cohen Syndrome is the presence of distinctive facial features. These may include a prominent, high-arched palate (roof of the mouth), widely spaced and downward slanting eyes, thick eyelashes, a prominent nasal bridge, and full lips.

Vision Problems

Many individuals with Cohen Syndrome experience vision problems, such as nearsightedness (myopia), astigmatism, or uncontrollable eye movements (strabismus). Some individuals may also develop retinal degeneration, which can lead to further vision impairment.

Additionally, Cohen Syndrome is associated with other possible features, including joint hypermobility, low muscle tone (hypotonia), obesity, and truncal obesity. While there is no cure for Cohen Syndrome, management of the condition focuses on treating symptoms and providing support for individuals and their families.