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Cohen syndrome

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.

Committee Members
Speaker at World Obesity and Weight Management Congress 2025 - Russell Rising

Russell Rising

D & S Consulting Services Inc, United States
Speaker at World Obesity and Weight Management Congress 2025 - Jeane Silva

Jeane Silva

Augusta University, United States
Speaker at World Obesity and Weight Management Congress 2025 - F Buck Willis

F Buck Willis

University of Belize, Belize
WOC 2025 Speakers
Speaker at World Obesity and Weight Management Congress 2025 - Charles Bernard

Charles Bernard

Criteria for Success, Inc., United States
Speaker at World Obesity and Weight Management Congress 2025 - Nicolaus Dahlmann

Nicolaus Dahlmann

Institute for Biometry and Nutrition, Germany
Speaker at World Obesity and Weight Management Congress 2025 - Fabiana Sant Anna Evangelista

Fabiana Sant Anna Evangelista

University of Sao Paulo, Brazil
Speaker at World Obesity and Weight Management Congress 2025 - Colleen Lindsey

Colleen Lindsey

Leading Notes, United States

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