Cohen Syndrome (VPS13B)

Cohen syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the gene VPS13B. It is more frequently observed in Finnish, Irish, and Mediterranean populations, as well as specific Amish communities. Onset of symptoms, specifically a failure to thrive and developmental delay, occurs in infancy and childhood. The syndrome is characterized by distinctive facial features, truncal obesity, short stature, intellectual disability, and a sociable personality. Progressive visual impairment begins in adolescence and becomes quite severe in adulthood. Life expectancy is not reduced, and there have been no reported genotype-phenotype correlations.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):