Cockayne syndrome genetic disorder affects growth, development, and DNA repair mechanisms скачать в хорошем качестве

Cockayne syndrome genetic disorder affects growth, development, and DNA repair mechanisms

Cockayne syndrome is a rare genetic disorder that affects DNA repair mechanisms, leading to premature aging, growth failure, and neurological degeneration. It is caused by mutations in the ERCC6 (CSB) or ERCC8 (CSA) genes, which impair the body's ability to fix damaged DNA2. Key Features Growth failure and short stature. Photosensitivity (extreme sensitivity to sunlight). Neurological decline, including developmental delays and movement disorders. Premature aging (similar to progeria). Vision and hearing impairments. Dental abnormalities. Types of Cockayne Syndrome Type I (Classic Form) – Symptoms appear in early childhood and worsen over time. Type II (Congenital Form) – More severe, with symptoms present at birth. Type III – Milder form with late-onset symptoms. Diagnosis & Treatment Genetic testing confirms the diagnosis. Symptom management includes physical therapy, nutritional support, and protective measures against sunlight. No cure exists, but supportive care improves quality of life #Cockaynesyndrome