Definition

What is Cockayne syndrome?

Cockayne syndrome (CS) is an extremely rare disease found in babies where there is impairment of the nervous system along with various other symptoms like short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. Cockayne syndrome can affect almost any vital organ of the body. There are three types of Cockayne syndrome:

Type I: The classic form of Cockayne syndrome. The symptoms start to become apparent by the time the child is about one year of age or just above. It becomes quite obvious by the time the child reaches second year that he or she is smaller than normal and is developmentally delayed. From thereon there is gradual deterioration of neurological, visual, and hearing dysfunction and ultimately the child succumbs to the condition by the time he or she enters the second decade of his or her life.

Type II: The most severe form of Cockayne syndrome and can be observed right at birth. Children with type II Cockayne syndrome will have spine and joint contractures leading to severe deformities. Affected patients usually succumb to this disorder by seven years of age.

Type III: The mildest form of Cockayne syndrome. Symptoms are apparent much later in life.

How common is Cockayne syndrome?

Cockayne syndrome is very rare and affects males and females in equal numbers. There are no indications of ethnic or racial partiality. As of 1992, about 140 cases of CS had been reported in the literature. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Cockayne syndrome?

The common symptoms of Cockayne syndrome are:

  • Microcephaly which will be apparent at birth itself. This will be followed by the inability of the child to grow normally and unable to meet the developmental milestones
  • Short stature
  • Children with this disorder will not be able to tolerate even minimal sunlight and may get blisters.
  • Hearing loss
  • Vision impairment
  • Tooth decay
  • Bone abnormalities
  • Constant coolness of the upper and lower extremities

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 or your loved one has any signs or symptoms listed above or has 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.

Causes

What causes Cockayne syndrome?

The main cause of Cockayne syndrome is mutation in gene CSA or CSB which are responsible for DNA repair. DNA can be damaged due to a variety of factors including sunlight exposure, various toxins and chemicals exposure.

Due to mutation in these genes, the DNA is not able to be repaired. This leads to severe cell damage and ultimately death of the cells which results in various symptoms including extreme photosensitivity and a premature aged appearance.

Cockayne syndrome is an autosomal recessive trait which means that one copy of the defective gene should be inherited from each parent for the child to get this condition.

Risk factors

What increases my risk for Cockayne 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 Cockayne syndrome diagnosed?

Cockayne syndrome is quite apparent right from the birth of the child with an abnormally small head circumference and other characteristics which may point to the condition.

To confirm the diagnosis of Cockayne syndrome, the doctor may perform a genetic testing looking for mutation of the CSA or CSB gene.

How is Cockayne syndrome treated?

There is no permanent cure for Cockayne syndrome and treatments are aimed at minimizing complications, improving the patients’ life quality.

  • Physical therapy is quite helpful in coping up with joint stiffness by loosening up the joints, correcting any posture difficulties, and loosening up any tight muscles
  • Medications may be prescribed for treating muscle spasms and tremors.
  • Speech therapy, to an extent, may help the child be able to speak up a few words and make his or her thoughts clear to his or her parents to caregivers.
  • Sunscreens are essential to prevent any sunburns or blisters from developing due to any sort of exposure to sunlight
  • Vision and hearing problems may be treated with hearing and vision aids

To detect any worsening of the condition, it is essential for the child to receive regular checkups and screenings at least once every six months if not less. This is because Cockayne syndrome is a progressive disorder and complications may arise any time.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Cockayne 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.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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