Rothmund-Thomson syndrome type 1
MONDO:0016368Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.
Also known as: RTS1, Rothmund-Thomson syndrome, type 1, poikiloderma of Rothmund-Thomson type 1, Poikiloderma Atrophicans and Cataract
43 clinical trials for this condition and its sub-types.
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Skin deep: european study probes the hidden emotional toll of skin diseases
Knowledge-focused Not yet recruitingThis study looks at how people with skin conditions (like eczema, psoriasis, or skin cancer) manage stress, feel lonely, and bounce back from challenges. Researchers will compare 375 adults with and without skin disease across 15 European countries using questionnaires. The goal …
Phase: NA • Sponsor: University Hospital, Brest • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:06 UTC
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New online tool aims to help families uncover hidden cancer risks
Knowledge-focused Not yet recruitingThis study tests whether a new online program can help families understand their inherited cancer risk and encourage relatives to get low-cost genetic testing. Researchers will enroll 400 adults who carry a cancer-related gene change and their family members. The goal is to see i…
Phase: NA • Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC
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50,000 samples to unlock secrets of hereditary tumors
Knowledge-focused Not yet recruitingThis study will collect blood and tumor tissue from up to 50,000 adults with hereditary or genetic-linked cancers. Researchers will use these samples to create lab-grown tumor models, like mini-tumors, to study how these cancers work and test new treatments. The goal is to better…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC