Kolehmainen et al listed clinical criteria that can be helpful in identifying a patient with Cohen Syndrome. The authors are from multiple institutions in Europe, Israel and the United States.
(1) developmental delay
(3) typical facial gestalt
(4) truncal obesity with slender limbs
(5) overly sociable behavior
(6) joint hypermobility
(7) high myopia and/or retinal dystrophy
Number of Criteria
6, 7 or 8
• I would think <= 2 criteria would not qualify as Cohen-like.
• The authors did not find mutations in COH1 in patients with Cohen-like phenotype but did find different mutations in those meeting the Cohen Syndrome phenotype.
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