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Disease Information

Summary

Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans. People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure. Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. However, the differences between the types are not always clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum.

About Cockayne syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Symptoms:May start to appear at any time in life.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
  • Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Neurological diseases(Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.)Skin diseases(Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.)Birth defects(Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.)

Resource(s) for Medical Professionals and Scientists on This Disease:

  • GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
  • MONDO provides GARD with information for this disease.
  • Orphanet provides GARD with information for this disease.

Resource(s) for Medical Professionals and Scientists on This Disease:

  • GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
  • MONDO provides GARD with information for this disease.
  • Orphanet provides GARD with information for this disease.

About Cockayne syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Symptoms:May start to appear at any time in life.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
  • Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Neurological diseases(Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.)Skin diseases(Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.)Birth defects(Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.)

Causes

What Causes This Disease?

Genetic Mutations

Changes in your genes (also called variants) cause Cockayne syndrome.

Genes are sections of DNA that contains instructions that help the body grow, develop, and function. A genetic variant is a change in your DNA's order. Parents may pass variants to their children, or they may occur randomly. They may result from viruses, environmental factors, such as UV radiation, or a combination of causes.

Most genetic variants do not cause disease. However, some can affect how a gene works and interfere with the body's normal functions. A pathogenic variant is one that causes disease.

If you think you may have this disease, collect your family health history (CDC). It may help you and your medical team to know about family members who have had the disease or similar symptoms and when those symptoms first appeared.

Read more about genetic disorders (NIH MedlinePlus). 

Genetic Mutations

Changes in your genes (also called variants) cause Cockayne syndrome.

Genes are sections of DNA that contains instructions that help the body grow, develop, and function. A genetic variant is a change in your DNA's order. Parents may pass variants to their children, or they may occur randomly. They may result from viruses, environmental factors, such as UV radiation, or a combination of causes.

Most genetic variants do not cause disease. However, some can affect how a gene works and interfere with the body's normal functions. A pathogenic variant is one that causes disease.

If you think you may have this disease, collect your family health history (CDC). It may help you and your medical team to know about family members who have had the disease or similar symptoms and when those symptoms first appeared.

Read more about genetic disorders (NIH MedlinePlus). 

Can diseases be passed down from parent to child?

A biological parent can sometimes pass down genetic changes, called mutations, that cause a disease or increase the chances of developing it. This is called inheritance. Knowing if other family members have had the disease, also known as your family health history, can give your medical team important information. The Surgeon General offers a tool to help you collect your family health history.

Autosomal Recessive

Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn't show any symptoms of the disease.

If both biological parents are carriers, there is a 25% their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

Autosomal Recessive

Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn't show any symptoms of the disease.

If both biological parents are carriers, there is a 25% their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of Cockayne syndrome Begin?

Symptoms of this disease may start to appear at any time in life.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
  1. Prenatal Selected
    Before Birth
  2. Newborn Selected
    Birth-4 weeks
  3. Infant Selected
    1-23 months
  4. Child Selected
    2-11 years
  5. Adolescent Selected
    12-18 years
  6. Adult Selected
    19-65 years
  7. Older Adult Selected
    65+ years
Symptoms may start to appear at any time in life.
This information comes from Orphanet

Symptoms

You may have one or more symptoms, and they may be mild or severe. Having some or all of these symptoms does not mean you have this disease. Only a health care provider can diagnose you.

Common

Many people have these, but not everyone.

  • Abnormal deposits of calcium in the brain (Cerebral calcification)
  • Abnormal eye structure (Abnormal eye morphology)
  • Abnormal retinal pigmentation
  • Acid reflux (Gastroesophageal reflux)
  • Ataxia
  • Basal ganglia calcification
  • Behavioral abnormality (Atypical behavior)
  • Breakdown of light-sensitive cells in back of eye (Retinal dystrophy)
  • Cerebellar dentate nucleus calcification
  • Cerebral dysmyelination
  • Clouding of the lens of the eye (Cataract)
  • Cognitive impairment
  • Congenital contracture
  • Contractures of the large joints
  • Deeply set eye
  • Degeneration of cerebellum (Cerebellar atrophy)
  • Degeneration of cerebrum (Cerebral atrophy)
  • Demyelinating peripheral neuropathy
  • Dental cavities (Carious teeth)
  • Dry hair
  • Feeding difficulties in infancy
  • Fine hair
  • Gliosis
  • Global developmental delay
  • Growth delay
  • Growth delay as children (Postnatal growth retardation)
  • High-frequency sensorineural hearing impairment
  • Mental deterioration
  • Muscle degeneration (Skeletal muscle atrophy)
  • Nerve damage causing decreased feeling and movement (Sensorimotor neuropathy)
  • Patchy demyelination of subcortical white matter
  • Peripheral neuropathy
  • Photosensitive skin (Cutaneous photosensitivity)
  • Pigmentary retinopathy
  • Premature skin wrinkling
  • Progressive gait ataxia
  • Progressive loss of vision (Progressive visual loss)
  • Progressive sensorineural hearing impairment
  • Progressively abnormally small cranium (Progressive microcephaly)
  • Reduced fat tissue below the skin (Reduced subcutaneous adipose tissue)
  • Seizure
  • Severe short stature
  • Somatic sensory dysfunction
  • Subcortical white matter calcifications
  • Underdeveloped teeth enamel (Enamel hypoplasia)
  • Wasting syndrome (Cachexia)

Uncommon

Some people have these, but most people do not.

  • Abnormal cornea morphology
  • Abnormal electroretinogram
  • Abnormal gait (Gait disturbance)
  • Abnormal kidney function (Abnormal renal physiology)
  • Abnormal number of teeth
  • Abnormal shape of end part of bone (Abnormal epiphysis morphology)
  • Abnormality of dental shape (Abnormal dental morphology)
  • Abnormally small eyeball (Microphthalmia)
  • Absence of adult teeth (Agenesis of permanent teeth)
  • Absence of pubertal development
  • Absence of tears in the eyes (Alacrima)
  • Absent kidney on one side (Unilateral renal agenesis)
  • Absent speech development (Absent speech)
  • Absent tendon reflexes (Areflexia)
  • Action tremor
  • Bad bite (Dental malocclusion)
  • Band keratopathy
  • Beaked nose (Convex nasal ridge)
  • Clouding of the lens of the eye at birth (Developmental cataract)
  • Constricted pupils (Miosis)
  • Corneal ulceration
  • Cross-eyed (Strabismus)
  • Decreased reflex response (Hyporeflexia)
  • Decreased tear secretion (Decreased lacrimation)
  • Delayed eruption of baby teeth (Delayed eruption of primary teeth)
  • Delayed puberty
  • Diabetes mellitus
  • Dry eyes (Keratoconjunctivitis sicca)
  • Enlarged liver (Hepatomegaly)
  • Extreme sensitivity of the eyes to light (Photophobia)
  • Farsightedness (Hypermetropia)
  • Focal retinal arteriolar constriction
  • Gastrostomy tube feeding in infancy
  • Hunched back (Kyphosis)
  • Hypertension
  • Hypertonia
  • Inability to walk
  • Increased muscle tone of arm or leg (Limb hypertonia)
  • Increased reflexes (Hyperreflexia)
  • Increased spleen size (Splenomegaly)
  • Increased thickness of skull cap (Thickened calvaria)
  • Intellectual disability
  • Intention tremor
  • Involuntary muscle stiffness, contraction, or spasm (Spasticity)
  • Involuntary, rapid, rhythmic eye movements (Nystagmus)
  • Lack of bladder control due to nervous system injury (Neurogenic bladder)
  • Lack of sweating (Anhidrosis)
  • Lentiglobus
  • Loss of bladder control (Urinary incontinence)
  • Loss of developmental milestones (Developmental regression)
  • Low muscle tone in trunk (Axial hypotonia)
  • Malar rash
  • Narrowing and hardening of arteries (Atherosclerosis)
  • Nephrotic syndrome
  • Optic atrophy
  • Optic disc pallor
  • Peripheral axonal neuropathy
  • Primary microcephaly
  • Renal failure (Renal insufficiency)
  • Retina degeneration (Retinal degeneration)
  • Retinal atrophy
  • Retinal bleeding (Retinal hemorrhage)
  • Scoliosis
  • Small kidneys (Renal hypoplasia)
  • Stooped posture
  • Undescended testes (Cryptorchidism)
  • Vascular calcification
  • Weak cry
This information comes from the Human Phenotype Ontology (HPO)

Navigating Health Care Decisions

On average, it can take more than six years to receive an accurate diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and patients often need to visit multiple specialists or seek second opinions to get answers.

If a diagnosis remains unclear, visiting a multidisciplinary care center or university hospital may help. These centers bring together teams of specialists who can work together to evaluate symptoms and coordinate a diagnosis. This team-based approach is also helpful after a diagnosis, when managing care for rare diseases.

Because only about 5% of rare diseases have FDA-approved treatments, finding the right healthcare team to manage your symptoms and overall health is essential. People living with rare diseases often face challenges such as delayed diagnosis, limited treatment options, and difficulty accessing knowledgeable providers. Building a care team that understands your needs can make a significant difference in your quality of life.

Your Health Care Team

Why is building the right health care team important?

Building the right health care team is key to the diagnosis, treatment, and management of your long-term health journey living with a rare disease. Start by choosing a primary care provider (PCP). Your PCP will be your main point of contact and help coordinate care with other medical professionals. Your PCP may order tests or refer you to specialists. To find a PCP near you, use the Medicare provider search tool and enter your location and “Primary Care Provider.”

Seeing multiple specialists is important for people with rare diseases because these conditions often affect many parts of the body and require care from doctors with different expertise. Most primary care providers may not be familiar with rare diseases, so involving specialists can lead to a more accurate diagnosis and better care. A coordinated team approach ensures that all symptoms are addressed and that care is well-managed. It can also connect patients with the latest research or treatment options.

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.

These specialists may help in the diagnosis, management, and treatment of Cockayne syndrome:

Neurologists are doctors with specialized training in diagnosing and treating conditions that affect the brain, spinal cord, and nerves. These parts of the nervous system help control how the body moves, feels, and thinks. Neurologists often care for people with seizures, memory problems, muscle weakness, movement disorders, and inherited conditions such as muscular dystrophies. To better understand a person's symptoms, neurologists may use imaging tests that show the brain or spine, or tests that measure the brain’s electrical activity.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Board of Psychiatry and Neurology to find a specialist. 
Oncologists are doctors with specialized training in diagnosing, treating, and managing different types of cancer and conditions that could become cancerous. They may specialize in specific cancer types, such as blood cancers, breast cancer, or gastrointestinal cancers. Some oncologists also have training in rare or inherited cancers. They use a range of treatments, including surgery, chemotherapy, radiation therapy, immunotherapy, and targeted drug therapies.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for an oncologist in your area. Search using the keywords “Medical Oncology.”
Otolaryngologists, also known as ear, nose, and throat doctors, are specialists trained to diagnose and manage conditions that affect the ears, nose, throat, and related areas of the head and neck. They commonly treat chronic ear infections, sinus conditions, voice or throat issues, hearing loss, and balance problems. Some may also manage cancers or inherited conditions affecting this region and may focus on specific areas like pediatric ENT or head and neck tumors.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral, or use this directory provided by the American Academy of Otolaryngology–Head and Neck Surgery to find a specialist.
Ophthalmologists are doctors with specialized training in managing serious eye problems, including those that require surgery. They may have additional experience with rare or inherited eye diseases, birth defects, or eye conditions linked to the nervous or immune system. Some ophthalmologists focus on specific areas, such as diseases of the retina or cancers of the eye. They may use imaging, vision tests, and lab work to diagnose and guide treatment.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Academy of Ophthalmology to find a specialist.
Geneticists are doctors trained to diagnose and manage conditions caused by genetic changes, birth defects, or metabolic disorders. Metabolic disorders affect how the body makes or uses energy. Geneticists often work alongside genetic counselors to review family history, discuss genetic risks, explain testing options, and interpret genetic test results. They help people understand how inherited conditions may affect them and their families.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American College of Medical Genetics and Genomics to find a specialist.
Retina specialists are eye doctors with advanced training in diagnosing and treating diseases of the retina. They focus on identifying and managing diseases such as inherited retinal diseases, macular degeneration, diabetic eye disease, and retinal inflammation. These specialists may have experience treating rare or complex retinal diseases and can help if you have unexplained vision loss, distorted vision, or are at risk for a genetic retinal disease. Retina specialists may prove particularly important when diseases are progressive, rare, or difficult to manage with standard care.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Use this directory by the American Society of Retina Specialists to search for a retina specialist in your area.
Dermatologists are doctors trained to diagnose and treat conditions that affect the skin, hair, and nails. Because the skin can show signs of many health issues, dermatologists often gain important insights by examining it. They commonly treat skin infections, rashes, eczema, hair loss, and skin cancers. To diagnose some conditions, dermatologists may take small skin samples (biopsies) for testing. Treatments can include medications, light therapies such as ultraviolet radiation, and surgery to remove damaged tissue or skin cancers.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Academy of Dermatology Association to find a specialist.

Multidisciplinary Care Centers

Is It Time to Get a Second Opinion or Specialized Evaluation?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but are still searching for a diagnosis, it may be time to visit an academic medical center or, for pediatric patients, a children's hospital. Academic medical centers and children's hospitals, often called multidisciplinary care centers, typically bring together specialists from different fields to work together on complex cases like rare diseases.

Multidisciplinary care centers may offer more coordinated care and be involved in clinical research, which may help reduce the time to diagnosis and provide access to emerging diagnostic tools. Specialists at these centers may have a deeper understanding of rare diseases and serve as a resource when you'd like a second opinion, particularly when test results or treatment plans are not delivering expected results.

Find hospitals that may partner with medical schools and programs in your area. 

Children’s hospitals and large teaching hospitals may also offer dedicated specialists and programs for pediatric patients with undiagnosed or rare diseases. These programs bring pediatric experts together in one place and may provide more coordinated care for your child.

Search for children's or university hospitals in your area.

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis, care management, or treatment plan remains unclear despite extensive efforts by your PCP and specialists, it may be time to find a rare disease expert for your disease, if available. A rare disease expert is a medical provider that has knowledge or training on specific rare disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals, sometimes called centers of excellence. Centers of Excellence commit to sharing knowledge and best practices that can lead to improved care and treatment for individuals living with a rare disease. 

You can also contact a GARD Information Specialist for help finding experts, centers of excellence, or clinics that focus on your disease.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you.

Find Your Community

How can patient organizations help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources


Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Contact a GARD Information Specialist for more information on organizations that may be dedicated to this disease. Please contact an organization directly if you have questions about the information or resources it provides.


View GARD's criteria for including patient organizations, which can be found under the FAQs on our About GARD page. Request an update or to have your organization added to GARD. 

Patient Organizations

3 Organizations

Cockayne Syndrome Foundation

People With

Cockayne syndrome

Country

United States

Share & Care Cockayne Syndrome Network Inc.

People With

Cockayne syndrome

Country

United States

Children's Skin Disease Foundation

People With

Skin diseases

Country

United States

OrganizationPeople WithHelpful LinksCountry
Cockayne Syndrome FoundationCockayne syndromeUnited States
Share & Care Cockayne Syndrome Network Inc.Cockayne syndromeUnited States
Children's Skin Disease FoundationSkin diseasesUnited States

Participate in Research

Clinical studies are a part of clinical research and play an important role in medical advances for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.

Learn more about clinical trials from this National Institutes of Health webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies  with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Why may you want to consider joining the All of Us Research Program?

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Search ClinicalTrials.gov for this disease.
GARDGenetic and Rare Diseases
Information Center
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
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Sources & References

Last Updated: September 2026