Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome- This 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. The disease is expressed as result of gene defect in chromosome 8. In this article, we will discuss about the causes, symptoms, the genes responsible for Cohen Syndrome and its treatments.

 Symptoms of Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

How Is Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome Defined?

  • Genetic Disorder- Cohen syndrome is a genetic disorder. Cohen syndrome is a genetic disorder which is autosomal recessive in nature which is caused by an abnormal mutation of COH1 gene present in chromosome 8.1
  • Syndrome- Syndrome is a group of symptoms repeated in every patients suffering with similar genetic mutation.
  • Clinical Manifestation- Cohen syndrome is a disease which expresses symptoms like hypotonia, facial abnormalities, abnormalities of the head and extremities, as well as mental retardation.2
  • Characteristics of Disease-2
    • Head and Skull Size- The size of head and skull of the patients suffering with Cohen Syndrome is smaller in size than average patients of that age.
    • Obesity is also a characteristic of Cohen syndrome typically centered on the torso.
    • Lower White Blood Cell Count- White blood cells count is lower (Neutropenia) in patients suffering with Cohen disease. Condition called as neutropenia.

Causes of Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

  • Mutations in COH1 gene are the root cause of Cohen syndrome.
  • 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.1
  • It is not clear how any loss of VPS13B protein is involved in the symptoms of Cohen syndrome.

Symptoms of Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

  • 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 Chreioretinitis 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.

Diagnosis for Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

  • Clinical Manifestation of Syndrome- The major symptoms and sign 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.

Treatment for Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

Symptomatic Treatment for Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

  • 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.

Physical Therapy (PT) for Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

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

Eye Examination for Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

  • 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.

Cardiac Abnormalities

  • Associated cardiac disease should be treated even at early age.


1. Clinical variability of genetic isolates of Cohen syndrome.

Douzgou S1, Petersen MB.

Clin Genet. 2011 Jun;79(6):501-6. doi: 10.1111/j.1399-0004.2011.01669.x. Epub 2011 Apr 7.

2. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

K E Chandler, A Kidd, L Al-Gazali, J Kolehmainen, A-E Lehesjoki, G C M Black,
J Clayton-Smith

3. Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.

Taban M1, Memoracion-Peralta DS, Wang H, Al-Gazali LI, Traboulsi EI.

J AAPOS. 2007 Oct;11(5):431-7.

Written, Edited or Reviewed By:


Last Modified On: October 5, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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