Rare Pediatrics News
Disease Profile
Cockayne syndrome type I
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.
0
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.
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.
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.
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 A; Cockayne syndrome classical; Cockayne syndrome classic form
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Cockayne
- 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
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 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 |
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 |
0001251 | ||
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 |
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 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
0002650 | ||
Tremor | 0001337 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
5%-29% of people have these symptoms | ||
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 |
0002061 | |
Macrotia |
Large ears
|
0000400 |
Muscular |
Low or weak muscle tone
|
0001252 |
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 | |
0001250 | ||
Short chin |
Decreased height of chin
Short lower third of face
[ more ] |
0000331 |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
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 DiagnosisMaking 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
OrganizationsSupport 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 moreThese 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
In-Depth Information
References
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