National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Werner Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Werner Syndrome is a rare progressive disorder that is characterized by the appearance of unusually accelerated aging (progeria). Although the disorder is typically recognized by the third or fourth decades of life, certain characteristic findings are present beginning during adolescence and early adulthood.
Individuals with Werner Syndrome have an abnormally slow growth rate, and there is cessation of growth at puberty. As a result, affected individuals have short stature and low weight relative to height. By age 25, those with the disorder typically experience early graying (canities) and premature loss of scalp hair (alopecia). As the disease progresses, additional abnormalities include loss of the layer of fat beneath the skin (subcutaneous adipose tissue); severe wasting (atrophy) of muscle tissue in certain areas of the body; and degenerative skin changes, particularly in the facial area, the upper arms and hands, and the lower legs and feet (distal extremities). Due to degenerative changes affecting the facial area, individuals with Werner Syndrome may have unusually prominent eyes, a beaked or pinched nose, and/or other characteristic facial abnormalities.
Werner Syndrome may also be characterized by development of a distinctive high-pitched voice; eye abnormalities, including premature clouding of the lenses of the eyes (bilateral senile cataracts); and certain endocrine defects, such as impaired functioning of the ovaries in females or testes in males (hypogonadism) or abnormal production of the hormone insulin by the pancreas and resistance to the effects of insulin (non-insulin-dependent diabetes mellitus). In addition, individuals with Werner syndrome may develop progressive thickening and loss of elasticity of artery walls (arteriosclerosis). Affected blood vessels typically include the arteries that transport oxygen-rich (oxygenated) blood to heart muscle (coronary arteries). Some affected individuals may also be susceptible to developing certain benign (noncancerous) or malignant tumors. Progressive arteriosclerosis, malignancies, and/or associated abnormalities may result in potentially life-threatening complications by approximately the fourth or fifth decade of life. Werner syndrome is inherited as an autosomal recessive trait.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Progeria Research Foundation, Inc.
2 Bourbon Street
Peabody, MA 01960
NIH/National Institute on Aging
PO Box 8057
Gaithersburg, MD 20892-8057
NIH/National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive
Bethesda, MD 20892-6612
International Registry of Werner Syndrome
University of Washington Department of Pathology
Health Science Building Room K543
1959 NE Pacific Street
Seattle, WA 98195-7470
Rare Cancer Alliance
1649 North Pacana Way
Green Valley, AZ 85614
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
American Society of Clinical Oncology
2318 Mill Road
Alexandria, VA 22314
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