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
Diagnosis
6, 7 or 8
Cohen Syndrome
<= 5
Cohen-like Syndrome
where:
• 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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