Rothmund-Thomson syndrome

Definition

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.

Also known as poikiloderma of Rothmund-Thomson, Rothmund-Thomson syndrome, RTS — per MONDO

Also identified as

• DOID 2732 per MONDO
• ICD9 759.89 per MONDO
• MESH D011038 per MONDO
• NCIT C3335 per MONDO
• Orphanet 2909 per MONDO
• SCTID 69093006 per MONDO
• UMLS C0032339 per MONDO

Affected Organs