Cockayne syndrome

Evidence-based neurology checklist on cockayne syndrome: Genetic types CS-A: this is caused by mutations in the ERCC8 gene on chromosome 5 CS-B: this is caused by mutations in the ERCC6 gene on chromosome 10 Some cases may be caused by MORC2 gene mutations Classification Early clinical features…

Genetic types

  • CS-A: this is caused by mutations in the ERCC8 gene on chromosome 5
  • CS-B: this is caused by mutations in the ERCC6 gene on chromosome 10
  • Some cases may be caused by MORC2 gene mutations

Classification

Early clinical features

Facial dysmorphism

Movement disorders

Other neurological features

Skeletal features

Ophthalmic features

Cardiorespiratory features

Dental features

Gastrointestinal features

Other systemic features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: features

References

  1. Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC. Cockayne's syndrome: a case report. Literature review. Med Oral Patol Oral Cir Bucal 2006; 11:E236-E238.
  2. Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Cockayne syndrome: clinical features, model systems and pathways. Ageing Res Rev 2017; 33:3-17. 
  3. Pasquier L, Laugel V, Lazaro L, et al. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Arch Dis Child 2006; 91:178-182.
  4. Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev 2013; 134:161-170.
  5. Saini AG, Sankhyan N, Vyas S, Laugel V, Calmels N, Singhi P. Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification. Neurology. 2016; 87:e56-57.
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