Cockayne syndrome is a rare genetic disorder caused by changes in the ERCC8 or ERCC6 genes. People with the disorder have many health issues, such as premature aging, that shorten a person’s life expectancy.
Cockayne syndrome (CS) is a rare autosomal genetic disorder characterized by types or a spectrum of symptoms such as poor growth, skeletal anomalies, premature aging, and others. Symptoms may start at any time in life, but the onset is
CS is a rare genetic disorder that may cause short stature, vision impairment, and premature aging. Other
There are three types:
- Type I (classical form): This type appears before a child is a year old and progresses with time.
- Type II (early onset): This type appears at birth and is the most
severe form. - Type III (mild, atypical): This type appears later on in life and is the rarest form.
Some researchers consider CS more like a spectrum than three distinct types.
Symptoms and symptom onset vary by the type of CS a person has. One person may have only mild symptoms, while another person’s symptoms may be much more
Possible symptoms include:
Face
- sunken eyes
- large ears
- overall older appearance for a person’s age
- atypical tooth positioning that increases the likelihood of cavities
- thin nose
- protruding upper and lower jaw (prognathism)
Eyes
- atrophy of nerve fibers in the eye (optic atrophy)
- cataracts
- crossed eyes (strabismus)
- farsightedness
- difficulty making tears
- inability to close eyelids fully
- nystagmus
- photophobia
- retinal degeneration
- sensitivity to light (photosensitivity)
- small eyes (microphthalmia)
- sunken eyes or eyes that appear uneven (enophthalmos)
- unusual retina coloring
Skin
- blue tinted skin (cyanosis)
- cold skin
- skin that scars easily
- reduced ability to sweat (anhidrosis)
Musculoskeletal
- short stature (dwarfism)
- long arms and legs (relative to short stature)
- small head (microcephaly)
- difficulties with balance and walking
- large joints
- muscle wasting (atrophy)
- sideways curved spine (kyphosis)
Neurological and developmental
- nervous system issues (epilepsy)
- involuntary movements such as tremors
- developmental delays
Other symptoms
- premature aging (similar to that observed in progeria)
- speech disorders
- hearing loss
- tooth decay
- kidney or liver problems
- high blood pressure (hypertension)
- fatty deposits around the heart
- enlarged liver (hepatomegaly)
- prematurely gray hair
CS is caused by genetic mutations, or changes, to the ERCC8 or ERCC6 genes.
- ERCC8 controls the production of a protein called CS A.
- ERCC6 controls the production of a protein called CS B.
Both proteins play an important role in the body’s ability to repair damage to DNA. When this process is impaired, it means that the cells
These genetic changes come about through something called autosomal inheritance (recessive). This means that for a person to inherit the disorder, they must inherit one copy of a gene from each parent during conception.
Again, CS is inherited from parents during conception – when the sperm meets the egg. If you have a family history of CS, you may be at higher risk of passing it along to your children.
Even if your child doesn’t develop the syndrome (it takes one copy from each parent for the syndrome to result), they may be an asymptomatic carrier.
There’s cure for CS. Treatment aims to address symptoms, prevent complications, and improve quality of life.
- Feeding assistance: A nasogastric tube or gastrostomy (feeding tube) can help babies and children get the nutrition they need.
- Vision care: Cataracts are treated with surgery. Strabismus (crossed eyes) is treated with patches and vision therapy. Vision issues and light sensitivity are treated with glasses and sunglasses.
- Dental care: Routine dental checkups help prevent and address cavities.
- Skin care: Wearing sunscreen (SPF
50+ ), ultraviolet (UV)-protective clothing, hats, and other protective items can help with photosensitivity. People may also need to avoid artificial light that has UV radiation. - Supportive treatments: Physical therapy, occupational therapy, speech therapy, and learning support may be helpful on a case-by-case basis to address developmental and physical delays. Some people may need corsets, wheelchairs, or other medical devices to support the body or help with movement.
- Other treatments: Hearing aids can be used to address hearing issues, and medications can help address other health issues as needed.
CS does affect a person’s life expectancy and depends on the type. The poorest outcomes in
| Type | Life expectancy ( |
|---|---|
| Type I (classical form) | 16 years |
| Type II (early onset/severe) | 5 years |
| Type III (mild, atypical) | over 30 years |
Doctors diagnose CS after observation of certain physical characteristics and other symptoms, as well as through laboratory testing.
Tests include:
- Genetic testing: These tests involve a blood sample where lab technicians look for mutations in the ERCC6 or ERCC8 genes.
- Skin biopsy: A skin biopsy involves a skin cell (fibroblast) sample that’s studied in a lab to look for the tissue repair rate; a person with CS may have a
slow DNA repair rate.
You can’t prevent CS. It’s a genetic disorder that a person is born with and has for life.
If you or your partner has a family history of the syndrome, consider making an appointment with a genetic counselor. Genetic testing can reveal if you carry the mutation in the ERCC6 or ERCC8 genes. From there, you can determine your risk of having a child with the disorder.
When was CS discovered?
Dr. Cockayne first described the syndrome in
How many people today are affected by CS?
Where can I find support?
There aren’t many support groups specifically for CS. Two that are active online include Share and Care Cockayne Syndrome Network and Amy and Friends. A doctor or healthcare professional may have additional suggestions for support.
CS is a