Description

Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features.The diagnosis of Cohen syndrome is based on clinical findings, but no consensus diagnostic criteria exist. Identification of biallelic pathogenic variants in VPS13B (also known as COH1) on molecular genetic testing establishes the diagnosis if clinical features are inconclusive.

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