Rothmund-Thompson's syndrome

Rothmund-Thompson's syndrome is a hereditary and familial disease characterized by short stature, cataracts, pigmentation of skin, baldness, abnormalities of bones, nails and teeth. The syndrome was first defined by the German ophthalmologist August Rothmund in 1868. It has recently been considered to be caused by a mutation in the gene RecQ helicase, which is involved in DNA replication and cell reproduction. Currently, there is no treatment for the disease.