Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Cohen syndrome
Introduction
Synonyms and keywords: Pepper syndrome, Cervenka syndrome, Hypotonia obesity and prominent incisors, Norio syndrome, Obesity-hypotonia syndrome, Prominent incisors-obesity-hypotonia syndrome
Overview
Overview
Cohen syndrome is characterized by obesity, mental retardation and craniofacial dysmorphism.
Historical Perspective
Historical Perspective
Cohen syndrome named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.
Pathophysiology
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
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
References
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]