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Cockayne syndrome type I


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Other Names:
Cockayne syndrome type A; Cockayne syndrome classical; Cockayne syndrome classic form
Categories:
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Nervous System Diseases; Rare Cancers; Skin Diseases See More
This disease is grouped under:
Cockayne syndrome

Summary Summary


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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 type 1 (type A), sometimes called “classic” or "moderate" Cockayne syndrome, diagnosed during early childhood
  • Cockayne syndrome type 2 (type B), sometimes referred to as the “severe” or "early-onset" type, presenting with growth and developmental abnormalities at birth
  • Cockayne syndrome type 3 (type C), a milder form of the disorder 
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

Symptoms Symptoms


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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.

Showing of 102 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Absent brainstem auditory responses 0004463
Basal ganglia calcification 0002135
Contractures involving the joints of the feet
Contractures of the foot joints
0008366
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
Elevated hepatic transaminase
High liver enzymes
0002910
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Pigmentary retinopathy 0000580
Postnatal growth retardation
Growth delay as children
0008897
30%-79% of people have these symptoms
Abnormality of peripheral nerve conduction 0003134
Abnormality of temperature regulation
Poor temperature regulation
0004370
Ataxia 0001251
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Decreased lacrimation
Decreased tear secretion
0000633
Diarrhea
Watery stool
0002014
Difficulty walking
Difficulty in walking
0002355
Hyperreflexia
Increased reflexes
0001347
Hypertension 0000822
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
0000966
Increased blood urea nitrogen 0003138
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
0000276
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
0000303
Optic atrophy 0000648
Postural instability
Balance impairment
0002172
Progeroid facial appearance
Premature aged appearance
0005328
Proteinuria
High urine protein levels
Protein in urine
[ more ]
0000093
Scoliosis 0002650
Tremor 0001337
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Anodontia
Failure of development of all teeth
0000674
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
0000528
Conjunctivitis
Pink eye
0000509
Delayed eruption of primary teeth
Delayed eruption of baby teeth
Delayed eruption of milk teeth
Late eruption of baby teeth
Late eruption of milk teeth
[ more ]
0000680
Hepatomegaly
Enlarged liver
0002240
Hypermelanotic macule
Hyperpigmented spots
0001034
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Hypoplasia of the primary teeth
Decreased size of baby teeth
Decreased size of milk teeth
Small baby teeth
Small milk teeth
Underdevelopment of baby teeth
Underdevelopment of milk teeth
[ more ]
0006334
Lower limb spasticity 0002061
Macrotia
Large ears
0000400
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
0000613
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ]
0000083
Scarring 0100699
Seizure 0001250
Short chin
Decreased height of chin
Short lower third of face
[ more ]
0000331
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ]
0002360
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Uveitis 0000554
Widely spaced primary teeth
Wide gaps between baby teeth
Widely spaced baby teeth
Widely spaced milk teeth
[ more ]
0006313
1%-4% of people have these symptoms
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Male hypogonadism
Decreased function of male gonad
0000026
Percent of people who have these symptoms is not available through HPO
Abnormal auditory evoked potentials 0006958
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
0001000
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
0000377
Abnormality of visual evoked potentials 0000649
Anhidrosis
Lack of sweating
Sweating dysfunction
[ more ]
0000970
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
0011675
Atypical scarring of skin
Atypical scarring
0000987
Autosomal recessive inheritance 0000007
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ]
0000670
Cerebral atrophy
Degeneration of cerebrum
0002059
Decreased nerve conduction velocity 0000762
Dementia
Dementia, progressive
Progressive dementia
[ more ]
0000726
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
0000689
Dry hair 0011359
Dry skin 0000958
Dysarthria
Difficulty articulating speech
0001260
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
0001288
Hypermetropia
Farsightedness
Long-sightedness
[ more ]
0000540
Hypogonadism
Decreased activity of gonads
0000135
Hypoplasia of teeth 0000685
Hypoplastic iliac wing 0002866
Hypoplastic pelvis 0008839
Increased cellular sensitivity to UV light 0003224
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Irregular menstruation
Menstrual irregularity
0000858
Ivory epiphyses of the phalanges of the hand
Increased bone density of end part of the hand bones
0010234
Kyphosis
Hunched back
Round back
[ more ]
0002808
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
0001376
Loss of facial adipose tissue
Decreased amount of facial fat
Loss of facial fat
[ more ]
0000292
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Micropenis
Short penis
Small penis
[ more ]
0000054
Muscle weakness
Muscular weakness
0001324
Normal pressure hydrocephalus 0002343
Opacification of the corneal stroma 0007759
Patchy demyelination of subcortical white matter 0002545
Peripheral dysmyelination 0003469
Polyneuropathy
Peripheral nerve disease
0001271
Reduced subcutaneous adipose tissue
Reduced fat tissue below the skin
0003758
Retinal pigment epithelial mottling 0007814
Sensorineural hearing impairment 0000407
Severe postnatal growth retardation
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ]
0008850
Slender nose 0000417
Sparse hair 0008070
Splenomegaly
Increased spleen size
0001744
Square pelvis bone 0003278
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap
[ more ]
0002684
Thymic hormone decreased 0003357
Showing of 102 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations


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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

  • Amy and Friends
    OCC The Bowling Green
    Village Road
    Oxton
    Wirral
    CH43 5SR
    United Kingdom
    Telephone: 07949 512968
    E-mail: jayne@amyandfriends.org
    Website: https://www.amyandfriends.org
  • Share and Care Cockayne Syndrome Network Inc.
    P.O. Box 282
    c/o Jackie Clark, President & Executive Director
    Waterford, VA 20197
    Telephone: 703-727-0404
    E-mail: cockaynesyndrome@gmail.com
    Website: http://cockaynesyndrome.org/
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More


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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

  • Genetics Home Reference (GHR) contains information on Cockayne syndrome type I. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.
  • 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    The Online Mendelian Inheritance in Man (OMIM)
    GeneTests
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cockayne syndrome type I. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.

References References


  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/.
Do you know of a review article? We want to hear from you.
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