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.


Clinical criteria:

(1) developmental delay

(2) microcephaly

(3) typical facial gestalt

(4) truncal obesity with slender limbs

(5) overly sociable behavior

(6) joint hypermobility

(7) high myopia and/or retinal dystrophy

(8) neutropenia

Number of Criteria


6, 7 or 8

Cohen Syndrome

<= 5

Cohen-like Syndrome



• 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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