Rare Nephrology News

Disease Profile

Cockayne syndrome type III

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 C; Cockayne syndrome type 3

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
Astrocytosis
0002446
Basal ganglia calcification
0002135
Dense calcifications in the cerebellar dentate nucleus
0002461
Subcortical white matter calcifications
0007346
30%-79% of people have these symptoms
Abnormality of peripheral nerve conduction
0003134
Adult onset sensorineural hearing impairment
0008615
Areflexia
Absent tendon reflexes
0001284
Brain atrophy
Brain degeneration
Brain wasting

[ more ]

0012444
Cerebral white matter atrophy
0012762
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity

[ more ]

0000992
Demyelinating peripheral neuropathy
0007108
Difficulty walking
Difficulty in walking
0002355
Hyperreflexia
Increased reflexes
0001347
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Intention tremor
0002080
Neurogenic bladder
Lack of bladder control due to nervous system injury
0000011
Peripheral axonal neuropathy
0003477
Premature coronary artery atherosclerosis
Premature coronary artery disease
0005181
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Unsteady gait
Unsteady walk
0002317
Vascular calcification
0004934
5%-29% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Dry hair
0011359
Elevated hepatic transaminase
High liver enzymes
0002910
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Hepatomegaly
Enlarged liver
0002240
Hydronephrosis
0000126
Hydroureter
0000072
Hypermetropia
Farsightedness
Long-sightedness

[ more ]

0000540
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Increased blood pressure
0032263
Kyphosis
Hunched back
Round back

[ more ]

0002808
Macrotia
Large ears
0000400
Mild postnatal growth retardation
0001530
Narrow nose
Decreased nasal breadth
Decreased nasal width
Thin nose

[ more ]

0000460
Neurodevelopmental delay
0012758
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying

[ more ]

0002216
Progressive microcephaly
Progressively abnormally small cranium
Progressively abnormally small skull

[ more ]

0000253
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Scoliosis
0002650
Seizure
0001250
Short chin
Decreased height of chin
Short lower third of face

[ more ]

0000331
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Urinary retention
0000016
1%-4% of people have these symptoms
Aortic root aneurysm
Bulge in wall of root of large artery that carries blood away from heart
0002616
Cardiomyopathy
Disease of the heart muscle
0001638
Corneal ulceration
0012804
Flexion contracture
Flexed joint that cannot be straightened
0001371
Keratoconjunctivitis sicca
Dry eyes
0001097
Lentiglobus
0011527
Microcornea
Co

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 III. 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. 
      • 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 III. 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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