Weber Cockayne Syndrome, also known as Cockayne Syndrome Type 3 or CS type 3, is a rare autosomal recessive genetic disorder that primarily affects multiple organ systems and leads to severe growth, developmental, and neurological abnormalities. It is considered a milder form of Cockayne Syndrome, which encompasses a group of related genetic disorders.
Individuals with Weber Cockayne Syndrome typically present with postnatal growth retardation, resulting in short stature, and have a characteristic facial appearance with a small head and a progeria-like appearance (premature aging). They may also have intellectual disability, hearing loss, and vision problems. Moreover, affected individuals may develop photosensitivity, which is an extreme sensitivity to ultraviolet (UV) light, leading to skin abnormalities such as sunburn-like rashes and premature aging of the skin.
The disorder is caused by mutations in the ERCC2 gene (also known as XPD gene), which plays a crucial role in DNA repair. These mutations impair the repair mechanisms, leading to the accumulation of DNA damage and increased cellular sensitivity to UV radiation.
Currently, there is no cure for Weber Cockayne Syndrome, and treatment is primarily supportive, focusing on managing the symptoms and improving the affected individual's quality of life. This may include physical therapy to help with mobility, hearing aids or cochlear implants for hearing loss, and regular surveillance for potential complications such as eye abnormalities or skin cancer.
In summary, Weber Cockayne Syndrome is a rare genetic disorder characterized by growth retardation, developmental delay, neurologic abnormalities, and photosensitivity.
