Cohen syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Pepper syndrome, Cervenka syndrome, Hypotonia obesity and prominent incisors, Norio syndrome, Obesity-hypotonia syndrome, Prominent incisors-obesity-hypotonia syndrome

Overview

Cohen syndrome is characterized by obesity, mental retardation and craniofacial dysmorphism.

Historical Perspective

Cohen syndrome named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.

Pathophysiology

Cohen syndrome has an autosomal recessive transmission with variable expression.^[1] It is believed to be a gene mutation at locus 8q22 gene COH1.^[2]

Diagnosis

The signs and symptoms vary due to variable expression. There are variable degrees of mental retardation with occasional seizure and deafness in Cohen syndrome.

Physical Examination

General appearance is one of obesity with thin/elongated arms and legs.

Eyes

Ocular complications, though rare, are:

Hemeralopia (decreased vision in bright light)
iris/retinal coloboma
Microphthalmia
Myopia
Nystagmus
Optic atrophy
Pigmentary chorioretinitis
Strabismus

Mouth

Micrognathia
Short philtrum
High vaulted palate

External links

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References

↑ Kivitie-Kallio S, Norio R (2001). “Cohen syndrome: essential features, natural history, and heterogeneity”. Am. J. Med. Genet. 102 (2): 125–35. PMID 11477603.
↑ Kolehmainen J, Black GC, Saarinen A; et al. (2003). “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”. Am. J. Hum. Genet. 72 (6): 1359–69. PMID 12730828.

de:Cohen-Syndrom fi:Cohenin oireyhtymä

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[pmid11477603-1] Kivitie-Kallio S, Norio R (2001). “Cohen syndrome: essential features, natural history, and heterogeneity”. Am. J. Med. Genet. 102 (2): 125–35. PMID 11477603.

[pmid12730828-2] Kolehmainen J, Black GC, Saarinen A; et al. (2003). “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”. Am. J. Hum. Genet. 72 (6): 1359–69. PMID 12730828.

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