ORPHA:420179
Malan overgrowth syndrome
Also known as: Sotos syndrome 2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,496
Trials
0
Interventional, condition-specific
Researchers
792
Distinct authors in sample
Gene link
NFIX
Definitive
Readiness
5/6
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.”
5/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — NFIX
- LiteraturePresent
2,496 matched papers (1,896 in last 10 years) Source
- Phenotype characterisedPresent
71 HPO annotations (e.g. Long face; Cutis marmorata; Pectus excavatum) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 12 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)
71
Associated phenotypes · MONDO:0013885
- Long face
- Cutis marmorata
- Pectus excavatum
- Anxiety
- Long fingers
Showing 5 of 71 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Nfixtm1.1Rmg/Nfix+ [background:] involves: 129S4/SvJae * C57BL/6J·MGI:6467327·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,496
2,496 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,496 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1,896 in the last 10 years · low confidence
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). 12 trials are registered for overgrowth syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
12 interventional trials matched overgrowth syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: overgrowth syndrome
12
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
- NCT06721884·RECRUITING·Herbal Evaluation Of Artemisia Annua For Small Intestinal Bacterial Overgrowth
Conditions: Small Intestinal Bacterial Overgrowth Syndrome (SIBO)·Matched via name phrase
- NCT07768267·NOT YET RECRUITING·Herbal Supplement (Biocidin REMOVE) for Bacterial Overgrowth in Irritable Bowel Syndrome
Conditions: Irritable Bowel Syndrome (IBS) · 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
- 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
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Malan overgrowth syndrome — check Associations / patient organisations on that page.
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") OR ("NFIX" OR "NFIX syndrome" OR "NFIX-related")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 "Malan syndrome"
Recall-expansion terms: Malan syndrome
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
- Publication count (2496) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:46:21.667Z