Cohen syndrome



What is Cohen syndrome?

Cohen syndrome or Pepper syndrome or Cervenka syndrome is a pathologic genetic disorder in which there is diminished muscle tone in the body along with other clinical features like mental retardation and abnormalities of face.

Cohen syndrome was first reported by M. Michael Cohen, an American geneticist and oral and maxillofacial surgeon, and coworkers in 1973.

How common is Cohen syndrome?

Cohen syndrome is not common. It occurs with high prevalence in Finnish populations. Please discuss with your doctor for further information.


What are the symptoms of Cohen syndrome?

The common symptoms of Cohen syndrome are:

  • Low birth weight- Newborn infants affected with Cohen syndrome have extremely low birth weight even if the parents are of above average height and weight.
  • Muscle tone- There is also hypotonia that is evident. Hypotonia results in strabismus of the eye secondary to weakness of eye muscles. Eye muscle weakness often causes nystagmus.
  • Growth retardation- With passage of time, parents of the affected child will notice severe growth retardation, extremely low tone of the muscle, and developmental delays.
  • Craniofacial abnormalities- Affected individuals have very distinct facial feature. The small mandible (micrognathia) and high curved palate causes difficulties in swallowing. Thick hair, bushy eyebrows, and long eyelashes are distinctive in young child. Eyes are small and slanting. Nose is less prominent and small.
  • Vision abnormalities- They tend to be extremely nearsighted. Retinal tissues pigmentary abnormality known as Pigmentary Chorioretinitis in few cases results in complete blindness. Size of the eye is small known as microphthalmia.3
  • Skeletal system- Affected individuals tend to be very small in stature with extremely narrow hands and feet. The joint are hyperextensible.
  • Central nervous system- Mental development is retarded and patient may suffer with seizure disorder. Few patients may suffer with neurological deafness.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Cohen syndrome?

Cohen syndrome is an autosomal recessive genetic disease caused by an abnormal mutation of COH1 gene located on chromosome 8 at 8q22-q23.

The main function of abnormal proteins produced from COH1 gene is still unknown, but researchers are of the belief that the gene may be involved in transporting proteins within the cell.

It is not clear how any loss of VPS13B protein is involved in the symptoms of Cohen syndrome.

Risk factors

What increases my risk for Cohen syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Cohen syndrome diagnosed?

Clinical manifestation of syndrome

The major symptoms and signs as described above is the single most important factor in diagnosis of the Cohen syndrome. The diagnosis of Cohen syndrome is generally considered within the differential diagnoses of many inherited conditions, in which mental retardation is associated with retinal dysfunction and obesity.

Genetic molecular analysis

The genetic molecular analysis is an expensive lab study mostly available for research purpose. A detailed karyotyping to include FISH studies for subtelomeric deletion is recommended to confirm the diagnosis of Cohen syndrome.

Eye examination

An important aspect of Cohen syndrome is the loss of peripheral visual field.

Pattern of obesity

The pattern of obesity also can confirm Cohen syndrome, usually truncal obesity, which is quite different from other genetic disorders.

Low white blood cell count

Blood examination shows lower white blood cell count. Patient suffers with frequent infection.

Cardiac test

Electrocardiogram and echocardiogram is performed to evaluate cardiac function.

How is Cohen syndrome treated?

At present, there is no cure for Cohen syndrome.

Treatment is basically focused on symptom management and also addressing delays in developmental milestones as a result of Cohen syndrome.

Children affected with Cohen syndrome require intensive physical therapy along with speech therapy in order to help with fine and gross motor function.

Frequent ophthalmological evaluations are also imperative due to vision impairment as a result of Cohen syndrome.

Infection should be treated appropriately. Early diagnosis using blood test and culture should follow with antiviral medication or antibiotics.

Associated cardiac disease should be treated even at early age.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Cohen syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: January 26, 2018 | Last Modified: January 29, 2018

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