What is Cohen Syndrome?

 Cohen syndrome is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in the VPS13B gene, which plays a key role in cellular processes. Though symptoms and severity vary from person to person, some of the most common characteristics include:

 • Developmental Delays: Children with Cohen syndrome often experience delays in speech, motor skills, and learning.

• Vision Problems: Progressive vision loss, including nearsightedness and retinal degeneration, is common.

• Low Muscle Tone (Hypotonia): Many children have reduced muscle strength, impacting movement and coordination.

• Neutropenia: A decrease in neutrophils (white blood cells) can make individuals more prone to infections.

 In addition to these challenges, children and adults with Cohen syndrome often have cheerful and friendly personalities, bringing joy to those around them.

 While Cohen syndrome is rare, early diagnosis and support services such as physical therapy, vision care, and developmental interventions can help children thrive.

 At Iros, we’re committed to raising awareness and contributing to efforts that support research and families affected by this condition.