Clinical Findings


RTS is characterized by the following clinical features:


- A unique skin rash, that begins in infancy usually on the cheeks, and spreads to the arms and legs and persists for life. This rash is called poikiloderma, and consists of areas of increased and decreased pigmentation, prominent blood vessels, and thinning of the skin.

- Sparse/absent scalp hair, eyebrows, and/or eyelashes

- Small stature

- Diarrhea and/or vomiting in early childhood

- Bone deformities

- Dental and nail abnormalities

- Juvenile cataracts

- Cancer: skin (usually basal cell or squamous cell carcinomas) or bone (osteosarcoma)



Mailing Address

Rothmund-Thomson Syndrome Foundation

4307 Woodward Court

Chantilly, VA 20151

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