Cohen syndrome

Cohen syndrome

A rare, autosomal recessive condition (MIM:216550) first described in the Finnish population, which is characterised by nonprogressive psychomotor retardation, motor clumsiness and microcephaly; typical facial features including high-arched eyelids, short philtrum, thick hair and low hairline; childhood hypotonia, joint hyperextensibility, retinochoroidal dystrophy and myopia above age 5; and periodic neutropenia.

Molecular pathology
Cohen syndrome is caused by a mutation in COH1 located on 8q22.

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Cohen,

M. Michael, Jr., U.S. pathologist.

Cohen syndrome - probable inherited autosomal recessive trait causing obesity, hypotonia, and mental deficiency.

Medical Eponyms © Farlex 2012