Chromosome 22q11.2 deletion syndrome, distal
MONDO:0012740Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.
Also known as: chromosome 22q11.2 deletion syndrome, distal, distal 22q11.2 microdeletion syndrome, distal del(22)(q11.2), distal monosomy 22q11.2, distal chromosome 22Q11.2 deletion syndrome
191 clinical trials for this condition and its sub-types.
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Heart drug tested to fight COVID-19 complications
Disease control TerminatedThis study tested a drug called CardiolRx in 90 hospitalized COVID-19 patients who also had heart disease or risk factors like diabetes or high blood pressure. The goal was to see if the drug could lower the chance of death, needing intensive care, or having heart problems. The t…
Phase: PHASE2, PHASE3 • Sponsor: Cardiol Therapeutics Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Blood filter during heart bypass may prevent organ damage, but trial stopped early
Disease control TerminatedThis study tested a device called Efferon LPS that filters blood during heart surgery when a heart-lung machine is used. The goal was to see if it could prevent multiple organ failure, especially kidney damage. Only 14 people took part before the study was stopped, so the results…
Phase: NA • Sponsor: Efferon JSC • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Heart surgery recovery: can patients manage their own precautions?
Symptom relief TerminatedThis study looked at whether letting patients manage their own recovery precautions after heart surgery leads to a better quality of life compared to following standard sternal precautions. Ten adults who had heart surgery were followed for up to a year. Researchers checked pain,…
Phase: NA • Sponsor: University of Chicago • Aim: Symptom relief
Last updated Jun 27, 2026 07:56 UTC
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Painkiller showdown: which is safer for the heart?
Knowledge-focused TerminatedThis study looked at how two common pain relievers—celecoxib (a Coxib) and naproxen (an NSAID)—affect blood clotting in people with rheumatoid arthritis who also have heart disease or are at high risk for it. All participants took low-dose aspirin daily. The goal was to see if on…
Phase: PHASE4 • Sponsor: Platelet and Thrombosis Research, LLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC