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.