Rare Nephrology News

Disease Profile

Cockayne syndrome type I

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cockayne syndrome type A; Cockayne syndrome classical; Cockayne syndrome classic form

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;

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 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]

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.

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

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.

    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

      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.

          References

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

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