Rothmund-Thomson syndrome type 1

Definition

Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.

Also known as poikiloderma of Rothmund-Thomson type 1, Rothmund-Thomson syndrome, type 1, RTS1 — per MONDO

Also identified as

• NCIT C178826 per MONDO
• OMIM 618625 per MONDO
• Orphanet 221008 per MONDO
• UMLS C5231433 per MONDO

Affected Organs