Rothmund-Thomson syndrome type 2

Definition

Rothmund-Thomson syndrome type 2 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, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

Also known as poikiloderma of Rothmund-Thomson type 2, Rothmund-Thomson syndrome, type 2, RTS2 — per MONDO

Also identified as

• NCIT C178827 per MONDO
• OMIM 268400 per MONDO
• Orphanet 221016 per MONDO
• UMLS C5203410 per MONDO

Affected Organs