Clinical Features

  • Failure to thrive in infancy and childhood
  • Truncal obesity in the teen years
  • Dysmorphic facial features
  • Early-onset hypotonia
  • Developmental delays
  • Microcephaly
  • Moderate to profound psychomotor retardation
  • Progressive retinochoroidal dystrophy and high myopia
  • Neutropenia in many with recurrent infections and aphthous ulcers in some
  • Cheerful disposition
  • Joint hypermobility

Approximately 200 affected individuals have been reported in the literature; however, Cohen Syndrome likely remains underdiagnosed as a result of under-recognition by physicians.

Cohen Syndrome is inherited in an autosomal recessive manner.