Cockayne syndrome type I

Title

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

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

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
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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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

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 MedlinePlus Genetics.

Organizations Organizations

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

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

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.

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