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Cockayne syndrome type 1

Synonyms
Cockayne syndrome type 1; Cockayne syndrome type I; Cockayne syndrome classic form; Cockayne syndrome classical; Cockayne syndrome type A; ERCC8-Related Cockayne Syndrome

Summary

Excerpted from the GeneReview: Cockayne Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Vincent Laugel
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Available tests

45 tests are in the database for this condition.

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Clinical tests (45 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CKN1, CSA, UVSS2, ERCC8
    Summary: ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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