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Cohen syndrome is characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Approximately 100 cases have been reported. A wide variety of manifestations have been observed in association with this syndrome, raising the possibility that not all of cases of Cohen syndrome correspond to the same process. It has been suggested that there are two types of Cohen syndrome, one with neutropenia and the other without neutropenia. Obesity progresses over time, along with the orthopedic alterations and oral problems. This syndrome is hereditary and transmitted as an autosomal recessive trait, with considerable variability of expression. Recently, characterization of a novel gene, COH1 (locus 8q22-q23) that is mutated in patients with Cohen syndrome has been reported. COH1 encodes a putative transmembrane protein that may be involved in vesicle-mediated sorting and transport of proteins within the cell. Orthodontic and orthopedic management, as well as psychopedagogic measures and possible growth hormone therapy, are necessary. The life expectancy of Cohen syndrome patients is not significantly altered. |