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Cohen syndrome is a rare genetic disorder characterized by a combination of developmental delays, intellectual disability, and distinct facial features. It is caused by mutations in the VPS13B gene, affecting various bodily systems. Individuals with Cohen syndrome often display nearsightedness, weak muscle tone (hypotonia), and joint hypermobility. The condition typically presents with a round face, prominent central incisors, thick hair, and a prominent nasal bridge. Apart from physical characteristics, those with Cohen syndrome may experience delayed motor skills, difficulties with speech and language, and behavioral issues. They may also have neutropenia (a decreased number of white blood cells) and vision problems like retinal dystrophy. Diagnosis involves a clinical evaluation, genetic testing, and a thorough assessment of symptoms. While there's no cure, supportive treatments focus on managing specific symptoms and providing educational and behavioral support to enhance the individual's quality of life. Early intervention and a multidisciplinary approach involving various specialists like therapists, educators, and healthcare providers can significantly benefit individuals with Cohen syndrome.
