Radioulnar synostosis-developmental delay-hypotonia syndrome
MONDO:0009952Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
Also known as: Der Kaloustian-McIntosh-Silver syndrome, radioulnar synostosis with developmental delay and hypotonia syndrome, der Kaloustian mcintosh silver syndrome, radioulnar synostosis, unilateral, with developintellectual disability and hypotonia, radioulnar synostosis, unilateral, with developmental retardation and hypotonia, unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance, unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance, unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance
55 clinical trials for this condition and its sub-types.
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New scale could help predict fall risk for hospital patients in turkey
Diagnosis CompletedThis study tested a Turkish version of the Johns Hopkins In-Room Independence Scale, which measures a patient's ability to move, use the toilet, and think clearly while in their hospital room. Researchers worked with 100 adults who had conditions like stroke, Parkinson's, or ampu…
Sponsor: Sisli Hamidiye Etfal Training and Research Hospital • Aim: Diagnosis
Last updated Jun 27, 2026 09:08 UTC
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Cannabinoid drug tested for aggression in disabled adults
Symptom relief CompletedThis early-phase trial tested the safety of nabilone, a synthetic cannabinoid, in 20 adults with intellectual and developmental disabilities who have severe aggression. The goal was to see if the drug is well-tolerated and to gather initial data on whether it might reduce aggress…
Phase: PHASE1 • Sponsor: Hsiang-Yuan Lin • Aim: Symptom relief
Last updated Jun 27, 2026 08:13 UTC
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Physiotherapy students test muscle relief techniques on themselves
Symptom relief CompletedThis study looked at how common muscle and posture problems are in physiotherapy students and whether a special physiotherapy program could help. 44 students with back pain and muscle tightness received treatments like trigger point release, stretching, and joint mobilization. Th…
Phase: NA • Sponsor: Charles University, Czech Republic • Aim: Symptom relief
Last updated Jun 27, 2026 08:13 UTC
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Who should control your sedation during surgery? new study compares options
Symptom relief CompletedThis study looked at whether letting patients control their own sedation during arm surgery under regional anesthesia leads to higher satisfaction compared to having an anesthesiologist control it. 70 adults having upper limb orthopedic surgery were randomly assigned to either pa…
Phase: NA • Sponsor: GCS Ramsay Santé pour l'Enseignement et la Recherche • Aim: Symptom relief
Last updated Jun 27, 2026 07:59 UTC
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New turkish health survey could improve care for muscle and joint problems
Knowledge-focused CompletedThis study translated the Generic Functional Index, a questionnaire that measures how well people can do daily activities, into Turkish. Researchers tested it with 200 adults who have muscle or joint problems to see if it is accurate and reliable. The goal is to give Turkish-spea…
Sponsor: Istanbul Bilgi University • Aim: Knowledge-focused
Last updated Jun 28, 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
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Paws for thought: cat training program shows promise for youth with disabilities
Knowledge-focused CompletedThis study tested a new program where early adolescents with developmental disabilities learned to train their family cat using positive reinforcement. The goal was to see if the training could improve the cat's attachment to the child and give the child a sense of responsibility…
Phase: NA • Sponsor: Oregon State University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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Physios take on ER duty: study tests if they can replace doctors for back pain
Knowledge-focused CompletedThis study tested whether specially trained physiotherapists can safely diagnose and treat non-urgent muscle and joint pain in the emergency room, compared to standard care from doctors. 102 patients with back, neck, or shoulder pain were randomly assigned to either a physiothera…
Phase: NA • Sponsor: Bern University of Applied Sciences • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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New program aims to boost tech careers for young adults with disabilities
Knowledge-focused CompletedThis study tested a program called TECH-Prep designed to help African American high school students and young adults with developmental disabilities explore careers in technology. The program included training and internships to increase interest in tech jobs, confidence, and rea…
Phase: NA • Sponsor: University of Wisconsin, Madison • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 UTC
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Gene sequencing uncovers mysterious fetal malformations
Knowledge-focused CompletedThis study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Speedy gene test aims to give answers on birth defects in just 7 days
Knowledge-focused CompletedThis study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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Which toothbrush works best for kids with special needs? study finds out!
Knowledge-focused CompletedThis study tested whether a triple-headed toothbrush removes more dental plaque than a regular single-headed toothbrush when parents brush the teeth of preschool children with developmental disabilities. Twenty-four children aged 3 to 6 years participated, and each child tried bo…
Phase: NA • Sponsor: Mahidol University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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Can CRPS patients imagine movement? new study investigates
Knowledge-focused CompletedThis completed study compared how well people with complex regional pain syndrome (CRPS), people with other muscle or bone pain, and healthy individuals can imagine movements. Researchers used a questionnaire called the MIQ-RS to measure motor imagery skills. The goal was to see …
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nīmes • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Mind, spirit, and pain: new study explores what chronic pain patients really believe
Knowledge-focused CompletedThis study surveyed 116 adults with chronic pain at a rehabilitation clinic to understand how their pain beliefs, spiritual well-being, and attitudes toward complementary and alternative medicine are related. Participants filled out several questionnaires about their pain, mood, …
Sponsor: Gulseren Demir Karakilic • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC