Cohen syndrome


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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.

Cohen syndrome

A rare autosomal recessive disease characterized by small head size, mental retardation, poor muscle tone, visual disturbances, joint laxity, and low white blood cell counts.

Cohen,

M. Michael, Jr., U.S. pathologist.
Cohen syndrome - probable inherited autosomal recessive trait causing obesity, hypotonia, and mental deficiency.
References in periodicals archive ?
Ocular findings in Brazilian identical twins with Cohen syndrome: case report.
Cohen Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, editors.
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
Broader geographical spectrum of Cohen syndrome due to COH1 mutations.