Definition
Cockayne syndrome is a rare autosomal recessive genetic disorder characterized by microcephaly, growth retardation, neurological disorders, and photosensitivity.
Symptoms
- Microcephaly
- Developmental delay
- Neurological decline
- Eye anomalies
Reasons
Mutation in the ERCC6 or ERCC8 genes.
Diagnosis
Clinical findings, genetic testing.
Treatment
Symptomatic and supportive treatment.
Which Polyclinic Should You Apply To?
Genetics Polyclinic
What to Do in an Emergency?
In case of seizure, emergency services should be consulted.
This page is for general information purposes only.