Cohen syndrome

A new disease profile is added to our database – Cohen syndrome. Cohen syndrome is one of the rare autosomal recessive disorders that are overrepresented in the Finnish population. The phenotype in Finnish patients is highly homogeneous, consisting of nonprogressive mild to severe psychomotor retardation, motor clumsiness, microcephaly, characteristic facial features, childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated neutropenia, and a cheerful disposition. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in genetics – Prof. Dr. Margarita Stefanova, MD, PhD.