Rothmund-Thomson Syndrome (RTS)

Rothmund-Thomson Syndrome (RTS)
Referenced from the Texas Children’s Hospital (1) and the Rothmund-Thomson Syndrome Foundation (2)

What is Rothmund-Thomson Syndrome?
Rothmund-Thomson Syndrome (RTS) is one of about 150 known types of ectodermal dysplasia syndromes.

RTS is an extremely rare genetic disorder most commonly diagnosed in infants between three and six months old who display a rash, known as poikiloderma, on their cheeks. This unique rash, a typical symptom of RTS, persists for life, and generally spreads to the rest of the body. Poikiloderma is notable for causing changes to the skin in pigmentation, tissue thickness and enlarged blood vessels in affected areas.

Other symptoms that are commonly found in individuals who are diagnosed with RTS are:

  • Sparse or absent scalp hair, eyebrows or eyelashes;
  • Small stature and slow growth;
  • Bone, dental and/or nail abnormalities/deformities;
  • Development of cataracts at a young age;
  • Gastrointestinal issues in infants and young children;
  • High susceptibility to a specific form of bone cancer (osteosarcoma) and several forms of skin cancer.

Individuals with RTS generally have a normal life span, provided they do not contract one of the forms of cancer that is associated with the disorder.

How is RTS diagnosed?
Most commonly, RTS is diagnosed when infants between the ages of three and six months develop poikiloderma; however, there are cases in which patients with “atypical rashes” have been diagnosed with “Probable RTS” when they have also developed more than one of the other common symptoms associated with the disorder.

The molecular testing of the RECQL4 gene can also help to confirm a diagnosis of RTS.

How do people inherit RTS?
RTS is a genetic, autosomal recessive disorder. Individuals with RTS inherit one mutated gene from each of their parents. Therefore, those with one mutated gene (parents) are carriers, but are asymptomatic (not affected by the disorder). If both parents are carriers, there is a 25 per cent chance that their children will be affected with RTS, a 50 per cent chance that their children will be asymptomatic carriers (like their parents), and a 25 per cent chance that their children will be unaffected.

How common is RTS?
RTS is a very rare genetic disorder, with approximately 300 cases documented around the world. It should be noted that there is no particular region or race that is more susceptible to RTS than others.

(1) Texas Children’s Hospital, Baylor College of Medicine: Rothmund-Thomson Syndrome [Internet]. Texas Children’s Hospital; [last modified April 19, 2011; accessed June 17, 2011]. [about 2 screens]. Available from:

(2) Rothmund-Thomson Syndrome Foundation: RTS Medical Information: What Is RTS? [Internet]. Rothmund-Thomson Syndrome Foundation; [accessed June 17, 2011]. [about 4 screens]. Available from: