" /> Rothmund-Thomson Syndrome - CISMeF





Preferred Label : Rothmund-Thomson Syndrome;

NCIt synonyms : RTS; Rothmund Thomson Syndrome;

NCIt related terms : Rothmund-Thompson Syndrome;

NCIt definition : An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.;

Alternative definition : NCI-GLOSS: A rare inherited disorder that affects the skin and many other parts of the body, including the bones, eyes, nose, hair, nails, teeth, testes, and ovaries. People with Rothmund-Thomson syndrome have an increased risk of osteosarcoma (bone cancer).;

Codes from synonyms : CDR0000662025; CDR0000662024;

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31/07/2025


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