Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
MONDO:0015160Also known as: MCA/variable MR, multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome
91 clinical trials for this condition and its sub-types, 0 tagged with Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
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Prader-Willi syndrome 32 trials
5 sub-types
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Noonan syndrome 22 trials · 25 incl. sub-types
14 sub-types
- Noonan syndrome 3 2 trials
- Noonan syndrome 5 1 trial
- Noonan syndrome 1 0 trials
- Noonan syndrome 10 0 trials
- Noonan syndrome 11 0 trials
- Noonan syndrome 13 0 trials
- Noonan syndrome 14 0 trials
- Noonan syndrome 2 0 trials
- Noonan syndrome 4 0 trials
- Noonan syndrome 6 0 trials
- Noonan syndrome 7 0 trials
- Noonan syndrome 8 0 trials
- Noonan syndrome 9 0 trials
- Noonan syndrome 12 0 trials
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22q11.2 deletion syndrome 7 trials · 13 incl. sub-types
4 sub-types
- DiGeorge syndrome 11 trials
- Velocardiofacial syndrome 4 trials
- Chromosome 22q11.2 deletion syndrome, distal 0 trials
- Congenital unilateral hypoplasia of depressor anguli oris 0 trials
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Silver-Russell syndrome 7 trials
11 sub-types
- Russell-silver syndrome, X-linked 0 trials
- Silver-Russell syndrome 1 0 trials
- Silver-Russell syndrome 3 0 trials
- Silver-Russell syndrome 5 0 trials
- Silver-Russell syndrome due to 11p15 microduplication 0 trials
- Silver-Russell syndrome due to 7p11.2p13 microduplication 0 trials
- Silver-Russell syndrome due to an imprinting defect of 11p15 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
- Silver-russell syndrome 2 0 trials
- Silver-russell syndrome 4 0 trials
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CHARGE syndrome 4 trials
1 sub-type
- CHD7-related CHARGE syndrome 0 trials
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Antley-Bixler syndrome 2 trials
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Mobius syndrome 2 trials
1 sub-type
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PHACE syndrome 2 trials
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Pallister-Hall syndrome 0 trials · 2 incl. sub-types
1 sub-type
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Meier-Gorlin syndrome 1 trial
9 sub-types
- Meier-Gorlin syndrome 1 0 trials
- Meier-Gorlin syndrome 2 0 trials
- Meier-Gorlin syndrome 3 0 trials
- Meier-Gorlin syndrome 4 0 trials
- Meier-Gorlin syndrome 5 0 trials
- Meier-Gorlin syndrome 6 0 trials
- Meier-Gorlin syndrome 7 0 trials
- Meier-Gorlin syndrome 8 0 trials
- Meier-Gorlin syndrome 9 0 trials
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Sotos syndrome 1 trial
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Occipital horn syndrome 1 trial
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Split hand-foot malformation 3 1 trial
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4q25 proximal deletion syndrome 0 trials
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Bosley-Salih-Alorainy syndrome 0 trials
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Carpenter syndrome 0 trials
2 sub-types
- MEGF8-related Carpenter syndrome 0 trials
- RAB23-related Carpenter syndrome 0 trials
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Char syndrome 0 trials
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Donnai-Barrow syndrome 0 trials
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Goodman syndrome 0 trials
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Hennekam-Beemer syndrome 0 trials
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Hypoglossia-hypodactyly syndrome 0 trials
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King-Denborough syndrome 0 trials
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Malan overgrowth syndrome 0 trials
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Marshall-Smith syndrome 0 trials
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Mietens syndrome 0 trials
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2 sub-types
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Potocki-Shaffer syndrome 0 trials
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Prader-Willi-like syndrome 0 trials
3 sub-types
- 6q16 deletion syndrome 0 trials
- BDV syndrome 0 trials
- SIM1-related Prader-Willi-like syndrome 0 trials
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Robinow syndrome 0 trials
3 sub-types
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SHORT syndrome 0 trials
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Schinzel-Giedion syndrome 0 trials
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Toriello-Carey syndrome 0 trials
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Weiss-Kruszka syndrome 0 trials
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Ablepharon macrostomia syndrome 0 trials
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3 sub-types
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Branchiogenic deafness syndrome 0 trials
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Campomelia, Cumming type 0 trials
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Campomelic dysplasia 0 trials
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Cerebrocostomandibular syndrome 0 trials
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Isotretinoin-like syndrome 0 trials
1 sub-type
- Isotretinoin syndrome 0 trials
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Lethal faciocardiomelic dysplasia 0 trials
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Microphthalmia with limb anomalies 0 trials
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Mosaic SMO syndrome 0 trials
2 sub-types
- Curry-Jones syndrome 0 trials
- Happle-Tinschert syndrome 0 trials
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Oculodentodigital dysplasia 0 trials
1 sub-type
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Oculotrichoanal syndrome 0 trials
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Polyvalvular heart disease syndrome 0 trials
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Restrictive dermopathy 1 0 trials
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Ulnar-mammary syndrome 0 trials
Most studied deeper sub-types
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New drug combo targets Hard-to-Treat cancers in early trial
Disease control CompletedThis early-phase study tests a new drug called ERAS-601, alone or with other cancer treatments, in adults with advanced solid tumors that have not responded to standard therapies. The main goals are to find safe doses and check for side effects. About 90 participants will take pa…
Phase 1 • Sponsor: Erasca, Inc. • Aim: Disease control
Last updated Sep 18, 2026 00:00 UTC
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Can a pill tame the relentless hunger of Prader-Willi syndrome?
Disease control CompletedThis phase 2 trial tests an oral drug called ARD-101 in adults with Prader-Willi syndrome, a genetic condition that causes an unrelenting feeling of hunger. Researchers give the drug twice daily for 28 days to see if it safely reduces hyperphagia, the intense drive to eat, using …
Phase 2 • Sponsor: Aardvark Therapeutics, Inc. • Aim: Disease control
Last updated Sep 10, 2026 00:00 UTC
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New combo therapy shows promise for Hard-to-Treat cancers
Disease control CompletedThis early-phase trial tested a combination of three drugs—vemurafenib, cetuximab, and irinotecan—in 47 people with advanced solid tumors that have a specific BRAF V600 mutation and could not be removed by surgery or had spread. The main goal was to find the safest dose and under…
Phase 1 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Growth hormone trial aims to boost muscle in Prader-Willi patients
Disease control CompletedThis completed Phase 3 study tested somatropin, a synthetic growth hormone, in 33 Japanese children and adults with Prader-Willi syndrome. The goal was to see if it safely improves body composition by increasing lean body mass and reducing fat. Participants were divided into thre…
Phase 3 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 08:11 UTC
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New pill JAB-3312 tested in patients with advanced cancers
Disease control CompletedThis early-stage trial tested an oral drug called JAB-3312 in 40 adults with advanced solid tumors (like lung, colon, or breast cancer) that had stopped responding to standard treatments. The main goals were to find a safe dose and check for side effects. Researchers also looked …
Phase 1 • Sponsor: Jacobio Pharmaceuticals Co., Ltd. • Aim: Disease control
Last updated Jun 27, 2026 08:07 UTC
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New lifestyle program aims to help Prader-Willi patients keep weight off
Disease control CompletedThis completed trial tested a personalized program of physical activity, nutrition guidance, and education for 128 adults with Prader-Willi syndrome. Participants followed the program during a 5-week hospital stay, with the goal of stabilizing or reducing their body mass index (B…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 07:53 UTC
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Can a wakefulness drug beat daytime sleepiness in Prader-Willi syndrome?
Symptom relief CompletedThis phase 2 study tested whether pitolisant, a drug that promotes wakefulness, can safely reduce excessive daytime sleepiness in people with Prader-Willi syndrome. The trial enrolled 65 participants aged 6 to 65 and compared pitolisant to a placebo over 11 weeks, followed by an …
Phase 2 • Sponsor: Harmony Biosciences Management, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 12:31 UTC
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Could a blood pressure drug improve daily life for rare disease survivors?
Symptom relief CompletedThis study tested whether the drug Northera (droxidopa) is safe and helpful for adults with Menkes disease or Occipital Horn Syndrome who have trouble with low blood pressure and other symptoms of dysautonomia. Three participants took either the drug or a placebo in a crossover d…
Phase 1/2 • Sponsor: Stephen G. Kaler, MD • Aim: Symptom relief
Last updated Jun 27, 2026 12:07 UTC
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New gel shows promise for rare genetic disorder in kids
Symptom relief CompletedThis study tested a gel called ZYN002, applied to the skin, in 20 children and teens (ages 4-17) with 22q11.2 deletion syndrome. The main goal was to see if the gel is safe and tolerable over 38 weeks. Researchers also looked at whether it could improve behavior and other symptom…
Phase 2 • Sponsor: Harmony Biosciences Management, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 11:00 UTC
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Can a 'Love Hormone' spray tame Prader-Willi symptoms?
Symptom relief CompletedThis study tested whether oxytocin nasal spray, sometimes called the 'love hormone,' can improve behavior and eating problems in adults with Prader-Willi syndrome. Fifty participants received either oxytocin or a placebo daily or every three days for 28 days. Researchers measured…
Phase 2/3 • Sponsor: University Hospital, Toulouse • Aim: Symptom relief
Last updated Jun 27, 2026 08:02 UTC
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Would families trade daily growth hormone shots for weekly ones?
Knowledge-focused CompletedChildren with growth hormone deficiency often need daily injections, which can be hard to keep up with. Researchers in Belgium and Luxembourg are asking families in the BELGROW registry to fill out a questionnaire about whether they would consider switching to long-acting growth …
Sponsor: Cliniques universitaires Saint-Luc- Université Catholique de Louvain • Aim: Knowledge-focused
Last updated Sep 21, 2026 21:00 UTC
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Rare disease mystery: NIH launches deep dive into Smith-Magenis syndrome
Knowledge-focused CompletedThis study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 11, 2026 00:00 UTC
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Scientists dive into the genetics of moebius syndrome
Knowledge-focused CompletedThis completed study by the National Human Genome Research Institute looked at 207 people with Moebius syndrome or similar congenital facial weakness disorders, along with their family members. Researchers aimed to better understand the genetic and clinical features of these cond…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 03, 2026 00:00 UTC
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Hormone study aims to unlock Prader-Willi feeding mystery
Knowledge-focused CompletedThis completed study looked at how appetite-regulating hormones change in infants with Prader-Willi syndrome during the first four years of life. Researchers collected blood samples from 215 infants to understand why they switch from poor feeding to severe overeating and obesity.…
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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Scoliosis curve size linked to pain and Self-Image in teens
Knowledge-focused CompletedThis study looked at 78 teens with adolescent idiopathic scoliosis to see if the size of their spinal curve (Cobb angle) is linked to how much pain they feel and how they see their body. Participants were grouped by curve severity (mild, moderate, moderate-to-severe). Researchers…
Sponsor: Antalya Training and Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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Study reveals key insights for safer cochlear implants in kids with rare CHARGE syndrome
Knowledge-focused CompletedThis study reviewed medical records of 12 children with CHARGE syndrome who had cochlear implant surgery. Researchers looked at their ear bone structure and surgical challenges to find ways to make the operation safer. The goal is to help surgeons better prepare for the unique an…
Sponsor: Seoul National University Bundang Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC
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Scientists investigate metabolism in kids with rare genetic syndrome
Knowledge-focused CompletedThis study looked at how children with Noonan syndrome process energy and sugar. Researchers measured insulin sensitivity in 20 children with the condition to see if they have unique metabolic traits. The goal was to better understand the disease, not to test a new treatment.
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:04 UTC
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Eye-Tracking reveals clues to autism in Children's gaze
Knowledge-focused CompletedThis study measured how children with and without autism look at faces, body movements, and objects using eye-tracking technology. Researchers wanted to see if visual patterns could help understand social differences in autism. 150 children took part, including those with autism …
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC