Cohen syndrome

Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome) is a rare genetic disorder characterized by a distinctive combination of features including intellectual disability, characteristic facial features, childhood-onset obesity (typically truncal), progressive retinal dystrophy, and intermittent neutropenia. The condition was first described by M. Michael Cohen Jr. in 1973 and is caused by mutations in the VPS13B (also called COH1) gene located on chromosome 8q22, which encodes a protein involved in intracellular protein transport and vesicle-mediated sorting. The syndrome affects multiple body systems. Craniofacial features include microcephaly (which may be present at birth or develop postnatally), prominent upper central incisors, an open mouth appearance, a short philtrum, thick hair and eyebrows, and a high nasal bridge. Ocular involvement is significant, with progressive chorioretinal dystrophy and high myopia that can lead to significant visual impairment over time. Affected individuals typically have joint hypermobility, slender hands and feet, and a cheerful, sociable disposition. Intellectual disability ranges from mild to severe, and motor milestones are often delayed. Intermittent neutropenia is a characteristic hematologic finding that can predispose patients to recurrent infections and oral ulcers. There is currently no cure for Cohen syndrome, and management is supportive and multidisciplinary. Treatment involves regular ophthalmologic monitoring to track retinal dystrophy, hematologic surveillance for neutropenia, speech and physical therapy, and educational support. Granulocyte colony-stimulating factor (G-CSF) may be considered for significant neutropenia with recurrent infections. Early intervention programs and regular developmental assessments are important to optimize outcomes. Genetic counseling is recommended for affected families.

Common questions about Cohen syndrome