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Cohen Syndrome

What is Cohen Syndrome?

Cohen syndrome, also known as Pepper syndrome, is a genetic disorder that affects motor skills, mental development, and behavior. Infants with the condition grow slowly and do not gain weight at the normal rate. They also have decreased muscle tone and unusually flexible joints. They feel floppy, like a rag doll, when lifted, and cannot control their heads. Over time, they have difficulty learning to roll over, sit up, crawl, and walk. Beginning in late childhood, people with the illness may begin to put on weight in the torso. Without intervention, they can become obese, although their arms and legs remain slender.

They show moderate to severe mental and motor retardation that remains constant and do not become progressively worse over time.

People with Cohen syndrome are prone to frequent and potentially severe infections because they have a lower than average level of certain infection-fighting white blood cells.

Cohen syndrome generally causes severe, progressive vision problems, notably extreme nearsightedness and degeneration of the retina. People with the condition often become functionally, if not entirely, blind.

People with Cohen syndrome tend to be unusually friendly and cheerful, even towards strangers they have no reason to trust. As a result, parents must be extra vigilant about their child's personal safety.

How common is Cohen Syndrome?

The exact prevalence of Cohen syndrome is unknown. It has been reported in fewer than 1,000 people worldwide, although more cases likely exist. It is most common in a small Amish community in Ohio, where it affects an estimated 1 in 500 people. It is also more common in Finland.

How is Cohen Syndrome treated?

There is no cure for Cohen syndrome, but early intervention with physical, occupational, and speech therapy can address symptoms like joint overflexibility, clumsiness, and developmental delays. Children with nearsightedness need glasses, while those with retinal degeneration benefit from training for the visually impaired.

In order to prevent recurrent infections, people with Cohen syndrome should be monitored throughout their lives for low white blood cell count.

What is the prognosis for a person with Cohen Syndrome?

The exact effect of Cohen syndrome on one's lifespan is unclear. Some people with the disease are known to be alive in their 50s.

Resources

Genetics Home Reference

Explanations of an extensive number of genetic diseases written by the U.S. government's National Institutes of Health.

National Organization for Rare Disorders

A federation of health organizations dedicated to helping people with rare diseases through education, advocacy, support, and research.

Phone: (800) 999-6673

The Arc

A non-profit organization focused on developing and improving support and services for people with intellectual and developmental disabilities.


Other names for Cohen Syndrome

  • Cohen Syndrome
  • Hypotonia, Obesity, and Prominent Incisors
  • Pepper Syndrome
  • Norio Syndrome
  • Obesity-Hypotonia Syndrome
  • Prominent Incisors-Obesity-Hypotonia Syndrome
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