Rothman-Thomson syndrome

Introduction

hereditary dermatosis

Genetics

• some are caused by mutations in the RECQL4 gene

Clinical manifestations

• atrophy, pigmentation, & telangiectasia
• juvenile cataract
• saddle nose
• congenital bone defects
• disturbances of hair growth
• hypogonadism

Management

• prognosis for survival is fairly good

More general terms

• progeroid syndrome

Additional terms

• ATP-dependent DNA helicase Q4; DNA helicase, recQ-like type 4; recQ4; RTS; recQ protein-like 4 (RECQL4, RECQ4)

Database

• OMIM: https://mirror.omim.org/entry/268400