Genetics of Cockayne Syndrome Differential Diagnoses

Updated: Dec 02, 2019
  • Author: Reem Saadeh-Haddad, MD; Chief Editor: Maria Descartes, MD  more...
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Diagnostic Considerations

Diagnostic considerations based on the presenting symptom or sign can arise. For patients with developmental delays and intellectual disability, a general workup for chromosomal anomalies should be considered. For growth failure, endocrine, metabolic, and gastrointestinal consultations should be sought. Intracranial calcifications require an investigation into congenital TORCH (toxoplasmosis, other [syphilis, varicella-zoster, parvovirus B19], rubella, cytomegalovirus, herpes) infections.

Overall, however, the presence of Cockayne syndrome can usually be surmised based on the degree of neurologic dysfunction, the degree of growth failure, and the existence of eye anomalies such as cataracts.

Differential Diagnoses