ORPHA:420179
Malan overgrowth syndrome
Also known as: Sotos syndrome 2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
80
55th percentile
Trials
0
Interventional, condition-specific
Researchers
792
Distinct authors in sample
Gene link
NFIX
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, and behavioral problems including anxieties and aggressiveness.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013885
- OMIM:614753
- UMLS:C3553660
Additional Mondo synonyms (1)
Sotos syndrome type 2
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — NFIX
- LiteraturePresent
80 matched papers (55 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 11 for broader category overgrowth syndrome
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (NFIX).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
80
80 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
80 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
55 in the last 10 years · high confidence · 55th percentile (publications denominator)
Phrase hits: 80 · MeSH hits: 0
Who's working on it?
792
Distinct author names in 80 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Priolo M4 papers · 2024
Unità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
Papers in Europe PMC - 02Delagrammatikas CG3 papers · 2026
Malan Syndrome Foundation, Old Bridge, NJ 08857, USA.
Papers in Europe PMC - 03Santos-Simarro F3 papers · 2021
Section of Clinical Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Papers in Europe PMC - 04Zenker M3 papers · 2023
Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg 39120, Germany. Electronic address: martin.zenker@med.ovgu.de.
Papers in Europe PMC - 05Cale JM2 papers · 2025
Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
Papers in Europe PMC - 06Cohn RD2 papers · 2025
Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada.
Papers in Europe PMC - 07Douglas J2 papers · 2018
Boston Children's Hospital - The Feingold Center, Waltham, MA 02115, USA.
Papers in Europe PMC - 08Dubey S2 papers · 2026
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Papers in Europe PMC - 09Edwards TJ2 papers · 2018
1 Queensland Brain Institute, The University of Queensland, Brisbane, 4072, Australia2 Departments of Neurology and Pediatrics, The University of California and the Benioff Children's Hospital, CA, 94158, USA.
Papers in Europe PMC - 10Fahrner JA2 papers · 2018
McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 11 trials are registered for overgrowth syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
11 interventional trials matched overgrowth syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: overgrowth syndrome
11
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07426705·NOT YET RECRUITING·Effect of Multispecies Probiotic Supplementation on the Efficacy of Rifaximin α Therapy in Patients With Small Intestinal Bacterial Overgrowth (SIBO): a Randomized Placebo-controlled Trial
Conditions: Small Intestinal Bacterial Overgrowth Syndrome (SIBO) · IBS·Matched via name phrase
- NCT06721884·RECRUITING·Herbal Evaluation Of Artemisia Annua For Small Intestinal Bacterial Overgrowth
Conditions: Small Intestinal Bacterial Overgrowth Syndrome (SIBO)·Matched via name phrase
- NCT06652087·RECRUITING·Rifaximin and Cardiac Function in Patients with Heart Failure with Preserved Ejection Fraction
Conditions: Bacterial Overgrowth Syndrome Small Bowel · Heart Failure with Preserved Ejection Fraction·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Malan overgrowth syndrome" OR "Sotos syndrome 2" OR "Sotos syndrome type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Malan overgrowth syndrome" OR "Sotos syndrome 2" OR "Sotos syndrome type 2" OR "NFIX"
Recall-expansion terms: NFIX
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"overgrowth syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T15:46:21.667Z