What is Rothmund-Thomson syndrome (RTS)?
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, particularly the skin.
What are the signs and symptoms of Rothmund-Thomson syndrome?
People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash 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 problems persist for life, and are collectively known as poikiloderma.
Rothmund-Thomson syndrome is also characterized by:
The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.
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