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Overgrowth syndrome
MONDO:0019716A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.
49 clinical trials for this condition and its sub-types, 1 tagged with Overgrowth syndrome itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Overgrowth syndrome
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PIK3CA-related overgrowth spectrum 15 trials · 19 incl. sub-types
5 sub-types
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Simpson-Golabi-Behmel syndrome 11 trials
2 sub-types
- Simpson-Golabi-Behmel syndrome type 1 0 trials
- Simpson-Golabi-Behmel syndrome type 2 0 trials
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Beckwith-Wiedemann syndrome 6 trials
8 sub-types
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion 0 trials
- Beckwith-Wiedemann syndrome due to 11p15 microduplication 0 trials
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion 0 trials
- Beckwith-Wiedemann syndrome due to CDKN1C mutation 0 trials
- Beckwith-Wiedemann syndrome due to NSD1 mutation 0 trials
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 0 trials
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 0 trials
- Franceschini Vardeu Guala syndrome 0 trials
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Angioosteohypertrophic syndrome 6 trials
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Hemifacial hypertrophy 5 trials
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Maffucci syndrome 2 trials
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Proteus syndrome 2 trials
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Congenital isolated hyperinsulinism 0 trials · 2 incl. sub-types
4 sub-types
- Diazoxide-sensitive diffuse hyperinsulinism 0 trials · 2 incl. sub-types Sub-types →
- Hyperinsulinemic hypoglycemia, familial, 2 1 trial Sub-types →
- Diazoxide-resistant hyperinsulinism 0 trials Sub-types →
- Hyperinsulinemic hypoglycemia, familial, 3 0 trials
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11p15.4 microduplication syndrome 0 trials
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15q overgrowth syndrome 0 trials
2 sub-types
- Distal tetrasomy 15q 0 trials
- Distal trisomy 15q 0 trials
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4p16.3 microduplication syndrome 0 trials
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AKT3-related overgrowth spectrum 0 trials
1 sub-type
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CLAPO syndrome 0 trials
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MTOR-related overgrowth spectrum 0 trials
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Malan overgrowth syndrome 0 trials
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Marshall-Smith syndrome 0 trials
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PIK3R2-related overgrowth spectrum 0 trials
1 sub-type
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Perlman syndrome 0 trials
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Weaver syndrome 0 trials
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Hemifacial myohyperplasia 0 trials
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Isolated hemihyperplasia 0 trials
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Tetrasomy 12p 0 trials
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Trisomy 5p 0 trials
Most studied deeper sub-types
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Could a pill shrink abnormal growths in PROS? new trial hopes to find out.
Disease control OngoingThis phase 2 study tests the drug alpelisib in 206 children and adults with PIK3CA-related overgrowth spectrum (PROS), a rare condition causing abnormal tissue growth. Participants receive either alpelisib or a placebo for 16 weeks to see if the drug can shrink growths by at leas…
Phase 2 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Aug 20, 2026 00:00 UTC
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Hope for rare overgrowth disorder: daily pill shows promise in early trial
Disease control OngoingThis phase 2 trial tests whether a daily pill called miransertib can slow or stop the abnormal tissue overgrowth seen in Proteus syndrome, a rare genetic condition. About 38 people aged 3 and older will take the drug for up to 4 years. Researchers will measure changes in foot ove…
Phase 2 • Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Disease control
Last updated Jul 19, 2026 00:00 UTC
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Drug shows promise for rare overgrowth disorder in long-term study
Disease control OngoingThis study looks at the long-term safety and effectiveness of the drug alpelisib in people with PIK3CA-Related Overgrowth Spectrum (PROS), a rare condition causing abnormal tissue growth. It includes 41 children and adults who previously took alpelisib in an earlier trial. Resear…
Phase 2 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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Sound waves instead of surgery: new device tested for vein disease
Disease control OngoingThis study tests whether a device called Sonablate can safely use high-intensity focused ultrasound (HIFU) to treat vein problems like varicose veins, leg ulcers, and certain birth defects. About 30 adults with these conditions will receive the treatment, which does not involve c…
Sponsor: Sonablate • Aim: Disease control
Last updated Jun 27, 2026 09:06 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Jaw surgery showdown: custom implants vs. traditional splints
Knowledge-focused By invitation onlyThis trial tests whether a custom-made implant (patient-specific implant) or a standard occlusal splint is more accurate for positioning the upper jaw during corrective jaw surgery. Twenty adults with jaw deformities will be randomly assigned to one of the two methods. The goal i…
Sponsor: Future University in Egypt • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 UTC