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Cohen syndrome

Thursday 25 September 2003

Cohen syndrome is an uncommon autosomal recessive disorder whose diagnosis is based on the clinical picture of nonprogressive psychomotor retardation and microcephaly, characteristic facial features, retinal dystrophy, and intermittent neutropenia. Increased frequency in Ashkenazi Jewish population and in Finland.


- short stature
- truncal obesity developing in mid-childhood
- low birth weight
- microcephaly
- short philtrum
- maxillary hypoplasia
- mild micrognathia
- down slanting palpebral fissures
- chorioretinal dystrophy
- myopia
- decreased visual acuity
- optic atrophy
- prominent nasal bridge
- high palate, narrow palate
- open mouth appearance
- prominent upper central incisors
- mitral valve prolapse
- mild lumbar lordosis
- mild thoracic scoliosis
- joint hyperextensibility
- cubitus valgus
- genu valgus
- narrow hands
- mild shortening of metacarpals
- transverse palmar creases
- narrow feet
- mild shortening of metatarsals
- transverse palmar creases
- mental retardation
- hypotonia
- seizures
- delayed motor milestones
- large corpus callosum
- delayed puberty
- growth hormone deficiency
- leukopenia


- mutations in the COH1 gene.

  • COH1 encodes a putative transmembrane protein of 4,022 amino acids, with a complex domain structure.
  • Homology to the Saccharomyces cerevisiae VPS13 protein suggests a role for COH1 in vesicle-mediated sorting and transport of proteins within the cell.