Cohen syndrome

Cohen syndrome is a very rare autosomal recessive genetic disorder with varied expression. It is characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction. It is also known as Pepper syndrome or Cervenka syndrome, after the researchers Michael Cohen, William Pepper and Jaroslav Cervenka. The syndrome is caused by pathogenic variants in the VPS13B gene at chromosomal locus 8q22, and variants in the same gene also cause Mirhosseini-Holmes-Walton syndrome, which is now considered the same entity. Frequent features include hypotonia, microcephaly, myopia, neutropenia, a high narrow palate and slender tapered fingers. Diagnosis rests on clinical examination and is often difficult because expression varies so much. Management is supportive, with early speech, physical and occupational therapy, glasses for severe nearsightedness and monitoring of weight, vision and blood counts. There is no cure.