Cockayne syndrome type III

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1417

Rare Pulmonology News

Disease Profile

US Estimated

Europe Estimated

Age of onset

-

ICD-10

Q87.8

Inheritance

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Cockayne syndrome type C; Cockayne syndrome type 3

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]

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 Amy and Friends OCC The Bowling Green Village Road Oxton Wirral CH43 5SR United Kingdom Telephone: 07949 512968 E-mail: [email protected] 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: [email protected] Website: https://cockaynesyndrome.org/ 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 Cockayne Syndrome Brochure. Share & Care Cockayne Syndrome Network. https://cockaynesyndrome.org/about-cs/. Genetics Home Reference. Cockayne Syndrome. 2016; https://ghr.nlm.nih.gov/condition/cockayne-syndrome. Laugel V. Cockayne Syndrome. Gene Reviews. June 14, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1342/. Rare Pulmonology News Features Rare Disease Profiles 5 Facts Rare IQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Pulmonology News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2023 Rare Pulmonology News. All Rights Reserved. Privacy Policy \| Terms of Service The Rare Medical Network Rare Cardiology News Rare Dermatology News Rare Endocrinology News Rare Gastroenterology News Rare Hematology News Rare Infectious Disease News Rare Immunology News Rare Nephrology/Urology News Rare Neurology News Rare Oncology News Rare Ophthalmology News Rare Pediatrics News Rare Primary Care News Rare Psychiatry News Rare Pulmonology News Rare Rheumatology News

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-

Q87.8

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Organizations

Organizations Supporting this Disease

Learn more

Where to Start

In-Depth Information

References

Rare Pulmonology News

Rare Pulmonology News

-

Q87.8

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Organizations

Organizations Supporting this Disease

Learn more

Where to Start

In-Depth Information

References

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.

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