NIH
Zebra of the Week: Cockayne syndrome
Cockayne syndrome is a rare disease which causes short stature, progeria, severe photosensitivity, and moderate to severe learning delay. Other manifestations include failure to thrive, microcephaly, impaired nervous system development, hearing loss, tooth decay, vision problems, and bone abnormalities. Cockayne syndrome is caused by genetic changes in either the ERCC8 (CSA) or ERCC6 (CSB) genes. Inheritance is autosomal recessive.
- Population estimate: Fewer than 5,000 people in the U.S. have this disease.
- Symptoms: May start to appear at any time in life.
Source:
(Accessed 2025, April 18). NIH GARD. Cockayne syndrome. https://rarediseases.info.nih.gov/diseases/6122/cockayne-syndrome