Costello syndrome
MONDO:0009026Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.
Also known as: Costello syndrome, FCS syndrome, congenital myopathy with excess of muscle spindles, faciocutaneoskeletal syndrome, CSTLO, myopathy, congenital, with excess of muscle spindles
16 clinical trials for this condition and its sub-types, 7 tagged with Costello syndrome itself.
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Cancer drug tested against deadly infant heart disease
Disease control Not yet recruitingResearchers are testing whether trametinib, an FDA-approved cancer drug, can help infants with RASopathies who have a severe, life-threatening heart condition called hypertrophic cardiomyopathy. The trial enrolls about 25 babies with a confirmed genetic diagnosis. Participants re…
Phase 3 • Sponsor: Carelon Research • Aim: Disease control
Last updated Sep 16, 2026 00:00 UTC
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Could you help scientists unlock genetic cancer secrets?
Knowledge-focused Not yet recruitingThis study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 21, 2026 20:00 UTC