- Failure to thrive in infancy and childhood
- Truncal obesity in the teen years
- Dysmorphic facial features
- Early-onset hypotonia
- Developmental delays
- 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.