Werner syndrome is a progeroid rare autosomal recessive condition attributed to chromosome 8. It should not to be confused with similarly sounding Wermer syndrome.
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Pathology
Werner syndrome is characterized by
- premature senescence
- cataracts
- short stature
- scleroderma-like skin changes such as hyperkeratotic skin, soft tissue calcification
- endocrine abnormalities such diabetes mellitus and hypogonadism
Associations
The syndrome also carries an increased risk of malignancy (particularly sarcoma formation 2).
Radiographic features
A general manifestation is valvular, soft tissue and/or arterial calcification from premature atherosclerosis. Musculoskeletal manifestations includes:
- osteoporosis: either generalized or localized to the peripheries
- osteosclerosis: phalangeal predominant 1
Etymology
First described by Otto Werner, German scientist, in 1904.
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