Werner syndrome presents as a rare disorder marked by markedly accelerated aging. It follows an autosomal recessive pattern of inheritance, indicating that both copies of the WRN gene in each cell contain mutations.
While the parents of an individual with Werner syndrome typically carry one copy of the mutated gene, they usually do not display any signs or symptoms of the disorder. Diagnosis typically occurs in middle age, despite the condition’s characteristics being present during adolescence and early adulthood.
Complications
Individuals with Werner syndrome exhibit an unusually slow growth rate, with growth ceasing at puberty. Early graying (canities) and premature loss of scalp hair are common symptoms of the disorder. Additionally, those affected are more likely to have short stature and low weight due to the condition’s impact on physical development.
As the disorder progresses, various abnormalities manifest, including loss of subcutaneous fat, severe muscle wasting in specific areas of the body, and degenerative changes in the skin, particularly in the facial region. Other symptoms may include a distinctive high-pitched voice, eye abnormalities such as premature clouding of the lenses, and endocrine defects. Females often experience impaired ovarian function, while males may have testicular dysfunction. Abnormal insulin production by the pancreas is also common among women with the syndrome.
Furthermore, individuals with Werner syndrome may be predisposed to both benign and malignant tumors, some of which can pose life-threatening complications.