Cohen Syndrome | Medical-Weight-Loss-Guide.com

Cohen syndrome (aka Pepper syndrome or Norio syndrome) is a genetic condition that was originally described from a cohort of Finnish patients in 1984. It was initially diagnosed based on a patient having a set of clinical characteristics. That set was later expanded. Researchers K.E. Chandler and colleagues have proposed a more formal definition to classify someone as having Cohen syndrome.

As mentioned above, this is a genetic syndrome. The gene responsible is called COH1 (aka VPS13B). It is inherited in a recessive manner, which means that one must get a defective gene from each parent in order to have the disease. The exact function of this gene has yet to be discovered, and how it causes the symptoms of Cohen syndrome remains to be elucidated. It is possible to do genetic testing for a defect in the COH1 gene, but how this plays into routine diagnosis has yet to be defined.

In addition to the diagnostic criteria, there are numerous other characteristics of Cohen syndrome. The most striking are the aspects of physical appearance. Excess fat tissue is confined to the trunk of the body while the limbs remain slender. The obesity associated with this syndrome as been over-reported with only half being overweight and only 20% being obese. Hands and feet are narrow, and there is a widened sandal gap.

The facial characteristics are as follows: smaller head, thick hair, bushy eyebrows, long eye lashes, down slanting and waved shaped eyes, beaked shaped nose, high nasal bridge, and short philtrum (the space between the nose and upper lip).

There are certain medical conditions that are associated with Cohen syndrome. Infants often have low muscle tone and can seem floppy. Joints are also hyperflexible. Puberty occurs on average at age 15. The major eye problems are early progressive nearsightedness and degeneration of the retina.

White blood cells help fight infection. A certain type of these cells is called the neutrophil which is present in only low amounts with this condition. Despite having low levels of neutrophils, infections seem to be limited to minor skin and dental infections.

All have developmental delay. On average, walking and the first spoken word do not occur until 2.5 years. Learning problems and mental retardation are also classic signs. Behavior can follow a patter with age. Parents often described their babies as placid and their children as affectionate. Adults are cooperative and socially interactive. However, these patients are overly friendly with strangers, very excitable, and can have hand flapping.

There is no "cure" for this condition, but through the use of a multidisciplinary team, many aspects of this condition can be addressed to help these people live as high a quality of life as possible. For more information, you can check out the Cohen Syndrome Association's web site.

It is important you discuss any weight loss or exercise plan with your doctor. Only you and your physician can decide what is best for you. Some people have certain conditions that prevent them from doing all exercises, and goal body weights may be different for different people. You need to discuss all these things with your physician before starting any weight loss or exercise program.