What is Cohen Syndrome?

Cohen Syndrome is a rare genetic disorder caused by mutations in the VPS13B gene. Globally fewer than 1,000 cases have been reported. Individuals with Cohen Syndrome are cheerful, loving, live long lives (generally requiring full-time care into adulthood), and make the lives of those around them richer.

Symptoms

While there are core features, the clinical spectrum of severity is very broad and those affected have a wide-range of abilities and medical challenges. Common symptoms include:
  • Night blindness and myopia (nearsightedness)
  • Microcephaly (small head circumference)
  • Friendly and cheerful disposition
  • Delayed walking and speech (some individuals are non-verbal)
  • Retinal dystrophy (causing progressive vision loss)
  • Intellectual disability
  • Truncal obesity in teenage years
  • Neutropenia (low white blood cells contributing to frequent illness and infection)
  • Hypotonia (weak muscle tone)
  • Failure to thrive in infancy
  • Characteristic facial features
  • Autism

Treatment

There is no cure for Cohen Syndrome or for the vision loss that takes place. Individuals with Cohen Syndrome benefit from:

Mailing List

Please enter your email to receive updates on publications and events.
Join
All rights reserved. Copyright 2025.