Rothmund-Thomson Syndrome: Symptoms & Signs

Medically Reviewed on 1/27/2022

Rothmund-Thomson syndrome is a rare genetic disorder that affects many organs in the body. Rothmund-Thomson syndrome is characterized by radial ray defects, skeletal abnormalities, and slow growth.

Signs and symptoms of Rothmund-Thomson syndrome include redness of the cheeks that develops between 3 and 6 months of age. The rash eventually spreads to the arms and legs, causing patchy changes in skin coloring, areas of skin tissue degeneration (atrophy), and small clusters of enlarged blood vessels just under the skin (telangiectases). These skin conditions are referred to as poikiloderma. Other associated symptoms and signs include

  • sparse hair, eyebrows, and eyelashes;
  • slow growth;
  • small stature;
  • teeth and nail abnormalities; and
  • chronic diarrhea and vomiting.

Causes of Rothmund-Thomson Syndrome

Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. In the remaining third, no specific cause has been identified.

Other rothmund-thomson syndrome symptoms and signs

  • Areas of Skin Tissue Degeneration (Atrophy)
  • Chronic Diarrhea and Vomiting
  • Facial Rash That Spreads to the Arms and Legs
  • Patchy Changes in Skin Coloring
  • Slow Growth
  • Small Clusters of Enlarged Blood Vessels Just Under the Skin (Telangiectases)
  • Small Stature
  • Sparse Hair, Eyebrows, and Eyelashes
  • Teeth and Nail Abnormalities

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Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.