Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
MONDO:0011555Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).
Also known as: ATRUS syndrome, RUSAT, radioulnar synostosis with amegakaryocytic thrombocytopenia
3 clinical trials for this condition and its sub-types.
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Scientists hunt for hidden genetic causes of rare bleeding disorder
Knowledge-focused CompletedThis study investigates inherited thrombocytopenias, rare conditions where low platelet counts cause bleeding problems. About half of patients have an unknown genetic cause. Researchers aim to identify new disease genes and build a lab-grown bone marrow model to test how well dru…
Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia • Aim: Knowledge-focused
Last updated Jul 01, 2026 00:00 UTC
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Kids test new bionic foot design
Knowledge-focused CompletedThis study tested a new prosthetic foot for children with leg amputations or birth defects. Thirteen kids walked with the device and gave feedback on stiffness and performance. The goal was to gather ideas to improve future foot designs.
Sponsor: Össur Iceland ehf • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC