National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cockayne syndrome

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Other Names:
Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome; Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome; Progeroid nanism See More
Categories:
Subtypes:
Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay.[1] This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities.[2] There are three subtypes according to the severity of the disease and the onset of the symptoms:[2][3]
Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes. Inheritance is  autosomal recessive.[2] Type 2 is the most severe and affected people usually do not survive past childhood. Those with type 3 live into middle adulthood.[1] There is no cure yet. Treatment is supportive and may include educational programs for developmental delay, physical therapy, gastrostomy tube placement as needed; medications for spasticity and tremor as needed; use of sunscreens and sunglasses; treatment of hearing loss and cataracts; and other forms of treatment, as needed.[3]
Last updated: 9/7/2017
The signs and symptoms of Cockayne syndrome are usually apparent from infancy and worsen over time.[3]

Cockayne Type I
Babies look normal at birth, but symptoms develop within the first two years.

More common signs and symptoms:
  • An smaller than normal sized head (microcephaly)
  • Failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development
  • 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. 
  • Developmental delay
  • Progressive impairment of vision, hearing, and central and peripheral nervous system function leading to severe disability
  • Severe teeth cavities (in up to 86% of individuals)
Symptoms observed in about 10% of the cases:
  • Neurological issues: Increased tone/spasticity, increased reflexes or decreased reflexes (hyper- or hyporeflexia), abnormal gait or inability to walk, lack of coordination (ataxia), lack of urination control (incontinence), tremor, abnormal or absent speech, seizures, weak cry/poor feeding (as an infant), muscle wasting (atrophy), and behavioral abnormality
  • Skin issues: Lack of sweating (anhidrosis) and facial rash
  • Eye and vision issues: Hollow eyes (enophthalmos),  pigmentary retinopathy (60%-100%), cataracts (15%-36%), optic atrophy, farsightedness, decreased or absent tears, strabismus, nystagmus, photophobia, and very small eyes (microphthalmia)
  • Teeth issues:  Absent or very small teeth, delayed eruption of deciduous teeth, and malocclusion
  • Kidney issues: Abnormal kidney function and abnormalities
  • Hormonal issues:  Undescended testes, delayed/absent sexual maturation
  • Fertility issues: People with classic or severe CS (types I or II) cannot reproduce 
  • Other: Enlargement of liver or spleen
Cockayne Type II 
This is the most severe subtype.

Symptoms may include:
  • Severe growth failure at birth
  • Severe
  • Severe neurologic development
  • Congenital cataracts or other eye anomalies are present in 30% of the cases
  • Joint contractures present at birth (congenital) or early postnatal contractures of the spine (kyphosis, scoliosis) and joints
Cockayne Type III
Similar to CS type I but milder.
Last updated: 9/7/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Abnormality of the sense of smell
Abnormal sense of smell
Smell defect
[ more ] 		0004408
Ataxia 0001251
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] 		0000992
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Hyperreflexia
Increased reflexes
0001347
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Macrotia
Large ears
0000400
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] 		0001268
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Peripheral neuropathy 0009830
Prematurely aged appearance
Precociously senile appearance
0007495
Retinopathy
Noninflammatory retina disease
0000488
Sensorineural hearing impairment 0000407
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
30%-79% of people have these symptoms
Abnormal chorioretinal morphology 0000532
Abnormality of the foot
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ] 		0001760
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin
[ more ] 		0008065
Atypical scarring of skin
Atypical scarring
0000987
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Decreased nerve conduction velocity 0000762
EEG abnormality 0002353
Erythema 0010783
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] 		0002213
Generalized hyperpigmentation 0007440
Hypertension 0000822
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Large hands
large hand
0001176
Open bite
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] 		0010807
Prominent superficial veins
Prominent veins
0001015
Sparse hair 0008070
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Tremor 0001337
5%-29% of people have these symptoms
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] 		0000174
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Abnormality of retinal pigmentation 0007703
Arthrogryposis multiplex congenita 0002804
Breast aplasia
Absent breast
0100783
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
Fatigue
Tired
Tiredness
[ more ] 		0012378
Glomerulopathy 0100820
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Microphthalmia
Abnormally small eyeball
0000568
Nephrotic syndrome 0000100
Optic atrophy 0000648
Oral cleft
Cleft of the mouth
0000202
Platyspondyly
Flattened vertebrae
0000926
Seizure 0001250
Telangiectasia of the skin 0100585
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Last updated: 7/1/2020
The prognosis for Cockayne syndrome varies by the disease type.[2] There are three types of Cockayne syndrome according to the severity and onset of the 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:[1][2]    
  • Cockayne syndrome Type 1 (type A) is marked by normal development until a child is 1 or 2 years old, at which point growth slows and developmental delays are noticed. Life expectancy for type 1 is approximately 10 to 20 years.
  • Cockayne syndrome type 2 (type B), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type II"), is the most severe subtype. Symptoms are present at birth and normal brain development stops after birth. Average lifespan for children with type 2 is up to 7 years of age.
  • Cockayne syndrome type 3 (type C) appears later in childhood with milder symptoms than the other types and a slower progression of the disorder. People with this type of Cockayne syndrome live into adulthood, with an average lifespan of 40 to 50 years.
Last updated: 9/7/2017

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis mainly includes mitochondrial diseases that may show similar clinical features to those seen in CS.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cockayne syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Cockayne syndrome
    Genetics of Cockayne Syndrome
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a friend whose toddler son was diagnosed with Cockayne syndrome. I would really like some more information about this condition and the survival rate for his son. See answer


  1. Cockayne Syndrome Brochure. Share & Care Cockayne Syndrome Network. http://cockaynesyndrome.org/about-cs/.
  2. Genetics Home Reference. Cockayne Syndrome. 2016; http://ghr.nlm.nih.gov/condition/cockayne-syndrome.
  3. Laugel V. Cockayne Syndrome. Gene Reviews. June 14, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1342/.