Catalog

Rothmund-Thomson syndrome type 2

No MMS code

Link to WHO Definition

Rothmund-Thomson syndrome type 2 – http://id.who.int/icd/entity/2111040755

Rothmund-Thomson syndrome type 2 differs from Rothmund-Thomson syndrome type 1 in that it is associated with mutations in the RECQL4 gene and an increased risk of osteosarcoma and squamous cell carcinoma.