Cockayne Syndrome: Clinical Aspects
Cockayne syndrome (CS) is a rare autosomal recessive degenerative disorder caused by deficient nucleotide excision repair. It is characterized by a distinctive facial appearance (sunken eyes and cheeks); postnatal poor growth; and progressive multisystem dysfunction, including of the central and peripheral nervous systems. Many clinical assessments are required to support a diagnosis of CS, and comprehensive investigations of the needs of patients and their families are also necessary. Although renal failure is not included in the diagnostic criteria for CS, it is considered to be an important symptom that can affect survival. Genetic heterogeneity in the renal pathology of CS might also exist. Clinicians should coordinate with various specialists to ensure appropriate managements. This approach will ensure that pediatric CS patients and their families will be able to spend meaningful time together while the patient retains a good quality of life.
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