Other Names for this Disease
- Pepper syndrome
Tests & Diagnosis
The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. However, the rate at which mutations are detected via genetic testing varies by ethnicity. For example, the mutation detection rate in COH1 is higher among the Finnish and Old Amish compared to individuals of from other populations. 
Last updated: 3/21/2013
- Falk MJ, Wang H, Traboulsi EI. Cohen Syndrome. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1482/. Accessed 3/21/2013.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.