Cohen syndrome

Cohen syndrome
Other namesPepper syndrome, Cervenka syndrome
In this illustration, 2 patients with Cohen syndrome and patient's (Fig1.A) brain MRI are shown. Patient A has prominent lips and short philtrum, thick hair eyebrows, and lashes; also, Fig.1C shows the lateral ventricular asymmetry and thick corpus callosum. Patient B has thick hair eyebrows and lashes, micrognathia, downslanted palpebral fissures.

Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome) is a very rare autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction.

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