The life expectancy for Cockayne syndrome varies depending on the type of the syndrome. The life expectancy for type I Cockayne syndrome is 10 to 20 years, whereas those with type II Cockayne syndrome may not survive after childhood (typically by the of age six to seven years). In type III, many children survive until the middle of adulthood.
What is Cockayne syndrome?
Cockayne syndrome is a rare genetic disorder that is characterized by the following:
- Microcephaly (abnormally small-sized head)
- Failure to thrive or failure to gain weight and grow as expected
- Dwarfism (short stature)
- Delayed development
- Sensitive to light
Cockayne syndrome is an autosomal recessive disorder that affects men and women equally and accounts for 2.5 cases in a million.
What are the types of Cockayne syndrome?
The three types of Cockayne syndrome include:
- Type I: Also known as the classic type, the symptoms appear after a child is one year old and gradually worsen.
- Type II: This is congenital and considered the most severe type of Cockayne syndrome. In this, the symptoms appear at the time of birth.
- Type III: This is a rare type; the symptoms are mild and appear later in life.
What causes Cockayne syndrome?
The mutations in genes, especially in ERCC6 and ERCC8 genes, impact the ability of DNA to repair, affecting the ability of cells to function. The damage in DNA may be due to toxins, exposure to chemicals, radiation, and free radicles. In Cockayne syndrome, the damaged DNA is not repaired easily. The faulty DNA accounts for photosensitivity and other features of Cockayne syndrome.
What are the signs and symptoms of Cockayne syndrome?
The signs and symptoms of Cockayne syndrome affect the following:
- Eyes
- Abnormal retina
- Cataract (clouding of the lenses of the eye)
- Crossed eyes
- Eyelids that do not close completely
- Lack of tears
- Optic atrophy
- Retina degeneration
- Microphthalmia (small eyes)
- Enophthalmos (sunken eyes)
- Face
- Hormones
- Skin
- Neurological and developmental problems
- Other common signs and symptoms
- Increased blood pressure
- Enlarged liver
- Accumulation of fat deposits in the heart
- Premature hair graying
- Dwarfism
- Hearing loss
- Muscle atrophy
- Kyphosis
- Unusual limbs with short stature
How is Cockayne syndrome diagnosed?
Cockayne syndrome is diagnosed based on the physical features and the following tests:
- Genetic testing: A blood sample is collected and checked for mutations in the ERCC6 and ERCC8 genes.
- Skin biopsy: A sample of skin tissue is collected and observed under a microscope to check for the abilities of DNA repair.
How to treat Cockayne syndrome
There is no cure for Cockayne syndrome, but treatment includes preventing complications and symptoms.
The following are the different methods to prevent complications:
- Surgery to treat cataracts
- Eye masks for crossed eyes
- Sunglasses to prevent photosensitivity
- Speech therapy
- Occupational therapy
- Physical therapy
- Hearing aids for hearing loss
- Therapy for developmental delays
- Medications to prevent or control conditions such as fat deposition, high blood pressure, and tremors
Medically Reviewed on 1/12/2023
References
Image Source: iStock image
https://dermnetnz.org/topics/cockayne-syndrome
https://medlineplus.gov/genetics/condition/cockayne-syndrome/#causes
https://my.clevelandclinic.org/health/diseases/23546-cockayne-syndrome
https://dermnetnz.org/topics/cockayne-syndrome
https://medlineplus.gov/genetics/condition/cockayne-syndrome/#causes
https://my.clevelandclinic.org/health/diseases/23546-cockayne-syndrome
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