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Disease Profile
Cockayne syndrome
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
All ages
ICD-10
Q87.1
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's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome;
Categories
Congenital and Genetic 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
Cockayne Type I
Babies look normal at birth, but symptoms develop within the first two years.
More common signs and symptoms:
- An smaller than normal sized head (
microcephaly ) - Failure to gain weight and grow at the expected rate (failure to thrive) leading to very
short stature , and delayed development - Increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin.
Developmental delay - Progressive impairment of vision, hearing, and central and peripheral nervous system function leading to severe disability
- Severe teeth cavities (in up to 86% of individuals)
Symptoms observed in about 10% of the cases:
- Neurological issues: Increased tone/
spasticity , increased reflexes or decreased reflexes (hyperor hyporeflexia), abnormal gait or inability to walk, lack of coordination (ataxia ), lack of urination control (incontinence), tremor, abnormal or absent speech,seizures , weak cry/poor feeding (as an infant), muscle wasting (atrophy), and behavioral abnormality - Skin issues: Lack of sweating (anhidrosis) and facial rash
- Eye and vision issues: Hollow eyes (enophthalmos), pigmentary retinopathy (60%-100%),
cataracts (15%-36%), optic atrophy, farsightedness, decreased or absent tears,strabismus ,nystagmus , photophobia, and very small eyes (microphthalmia) - Teeth issues: Absent or very small teeth, delayed eruption of deciduous teeth, and malocclusion
- Kidney issues: Abnormal kidney function and abnormalities
- Hormonal issues: Undescended
testes , delayed/absent sexual maturation - Fertility issues: People with classic or severe CS (types I or II) cannot reproduce
- Other: Enlargement of liver or spleen
Cockayne Type II
This is the most severe subtype.
Symptoms may include:
- Severe growth failure at birth
- Severe
- Severe neurologic development
Congenital cataracts or other eye anomalies are present in 30% of the cases- Joint
contractures present at birth (congenital) or early postnatal contractures of the spine (kyphosis,scoliosis ) and joints
Cockayne Type III
Similar to CS type I but milder.
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.