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Cockayne Syndrome

Cockayne Syndrome



Overview

Cockayne syndrome is a rare inherited disorder that causes:

Premature aging (progeria).

Sensitivity to light.

Short stature (dwarfism).

Progressive dementia.

What are the different types of Cockayne syndrome?

There are three types:

Type 1 (classic): Symptoms appear after a child is a year old and worsen with time.

Type 2 (congenital): Symptoms are present at birth. This is the most severe type.

Type 3: Symptoms are mild and appear later in life. This type is rare.

How common is Cockayne syndrome?

Cockayne syndrome occurs in approximately 2 to 3 per million newborns in the United States and Europe.

What are the symptoms of Cockayne syndrome?

Cockayne syndrome causes a broad range of symptoms affecting:

Eyes

Abnormal retina coloring.

Clouding of the eye lens (cataracts).

Crossed eyes (strabismus).

Eyelids that do not fully close.

Farsightedness.

Lack of tears.

Nerve fibers that waste away (optic atrophy).

Retina degeneration.

Small eyes (microphthalmia).

Sunken eyes (enophthalmos).

Face

Abnormal tooth positioning that increases the likelihood of cavities.

Large, misshapen ears.

Small head (microcephaly).

Thin nose.

Upper and lower jaw that stick out (prognathism).

Hormones

Delayed puberty.

Fertility issues.

Undescended testicles in boys.

Neurologic capabilities and development

Abnormally tight muscles (spasticity).

Decline in intellectual abilities.

Developmental delays.

Difficulty speaking (aphasia).

Essential tremor.

Issues with movement and coordination (ataxia).

Learning disabilities.

Seizures.

Skin

Decreased ability to sweat (anhidrosis).

Scars easily.

Skin that’s cold to the touch.

Skin with a blue tint (cyanosis).

Other areas

Abnormally high blood pressure.

Accumulation of fatty deposits near the heart (atherosclerosis).

Enlarged liver.

Hair that grays prematurely.

Height and weight that are well below the normal range (dwarfism).

Hearing loss.

Large joints.

Muscle wasting (atrophy).

Spine with a sideways curve (kyphosis).

Unusually long arms and legs relative to short stature.

What causes Cockayne syndrome?

Cockayne syndrome is a DNA repair disorder. The condition occurs due to mutations in the ERCC6 or ERCC8 gene. These defects impact the body’s ability to repair damaged DNA. Instead, it accumulates in cells, affecting their ability to function.

DNA damage may be due to:

Radiation.

Toxic chemicals.

Ultraviolet light.

Unstable molecules (free radicals).

How is Cockayne syndrome diagnosed?

Your healthcare provider will diagnose your condition based on a combination of clinical features and test results. Tests that help healthcare providers diagnose Cockayne syndrome include:

Genetic testing: Using a sample of blood, healthcare providers check for mutations in the ERCC6 or ERCC8 gene.

Skin biopsy: Evaluating a tissue sample in a lab enables healthcare providers to measure DNA repair capabilities. People with Cockayne syndrome have lower than normal repair rates.

What else is important to know about diagnosing Cockayne syndrome?

To receive an accurate diagnosis, it’s essential to see a healthcare provider familiar with this condition. They have the experience to rule out issues with similar symptoms, which include:

Hutchinson-Gilford progeria syndrome.

Laron syndrome.

Seckel syndrome.

What does Cockayne syndrome treatment consist of?

There is no cure for Cockayne syndrome. Treatment involves a team of specialists to prevent and treat complications. Treatment may include:

Dental care

Regular dental checkups are necessary to prevent and treat tooth decay.

Eyecare

Cataracts may need surgery.

Eye masks train weak eye muscles that cause crossed eyes.

Glasses for farsightedness.

Sunglasses to shield the eyes from bright lights.

Feeding assistance

A nasogastric tube or percutaneous endoscopic gastrostomy to deliver nutrition to the stomach.

Speech, physical and occupational therapy

Devices to help the body maintain natural positioning, such as a corset.

Physical and occupational therapy to cope with challenges like difficulty walking.

Speech therapy to maximize the ability to speak and swallow.

Other treatments

Education programs for developmental delays.

Heart care, including medications or a special diet to slow the buildup of fatty deposits in the heart.

Hearing aids for hearing loss.

Medications to control spasticity, tremors, high blood pressure and seizures.

Sun protection, including limiting sun exposure or wearing hats and long-sleeved tops.

Type of Doctor Department : Pediatric neurologist or a geneticist

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