Cohen syndrome


Also found in: Acronyms, Wikipedia.

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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.
Medical Dictionary, © 2009 Farlex and Partners

Cohen,

M. Michael, Jr., U.S. pathologist.
Cohen syndrome - probable inherited autosomal recessive trait causing obesity, hypotonia, and mental deficiency.
Medical Eponyms © Farlex 2012