Patients with Cohen Syndrome demonstrate many characteristic features. Retinal dystrophy is a disorder where the retina wastes away. Patients with Cohen Syndrome also have extreme near sightedness (myopia) that progressively worsens over time. Developmental delay is also seen, where patients with Cohen Syndrome meet developmental milestones later than expected, or do not meet developmental milestones at all. Individuals who have Cohen Syndrome have specific facial features, which include thick hair and eyebrows, long eyelashes, wave-shaped opening of the eyelids, broad tip of the nose, smooth or short philtrum (groove between the nose and the upper lip), and low muscle tone. Other cardinal features include small head size, flexible joints, obesity of the midsection with slender extremities, overly social behaviour, and low white blood cell counts.
VPS13B