ORPHA:457485
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Also known as: MINDS syndrome · Smith-Kingsmore syndrome
Publications
82
62.9th percentile
Trials
61
Interventional, condition-specific
Researchers
943
Distinct authors in sample
Gene link
MTOR
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome with , characterized by macrocephaly, , , facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular , global , autistic behavior, and café-au-lait spots, among others.
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:0014716
- OMIM:616638
- UMLS:C4225259
Additional Mondo synonyms (1)
Smith-Kingsmore Syndrome
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MTOR
- LiteraturePresent
82 matched papers (81 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 trialPresent
61 matched on ClinicalTrials.gov (11 recruiting in sample)
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 (MTOR).
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?
82
82 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.
82 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).
81 in the last 10 years · high confidence · 62.9th percentile (publications denominator)
Phrase hits: 82 · MeSH hits: 0
Who's working on it?
943
Distinct author names in 82 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Krueger DA7 papers · 2025
Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Papers in Europe PMC - 02Li F4 papers · 2024
Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Papers in Europe PMC - 03Liu AC4 papers · 2026
Department of Physiology and Aging, University of Florida College of Medicine, Gainesville, FL 32610, USA. Electronic address: andrew.liu@ufl.edu.
Papers in Europe PMC - 04Prada CE4 papers · 2026
Divisions of Human Genetics, Neurology, Immunobiology, Pediatric Otolaryngology, and Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Genetics, Genomics & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA. Electronic address: cprada@luriechildrens.org.
Papers in Europe PMC - 05Sahin M4 papers · 2025
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 06Tatton-Brown K4 papers · 2025
South West Thames Regional Genomics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
Papers in Europe PMC - 07Baple EL3 papers · 2025
College of Medicine and Health, University of Exeter, Exeter, UK
Papers in Europe PMC - 08Bebin EM3 papers · 2025
University of Alabama at Birmingham, Department of Neurology, Epilepsy Division, Birmingham, Alabama, USA.
Papers in Europe PMC - 09Chen G3 papers · 2024
Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Papers in Europe PMC - 10He H3 papers · 2026
Department of Physiology and Aging, University of Florida College of Medicine, Gainesville, FL 32610, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
61
interventional trials for this specific condition
61 interventional trials matched this specific condition name; 11 currently recruiting in our sample.
Data as of 27 July 2026
61 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.5th percentile).
high confidence · 97.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
61 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06535568·RECRUITING·Single vs. Dual Antiplatelet Therapy in Elderly or HBR Patients Undergoing Percutaneous Intervention With DCB (PICCOLETO IV-EPIC 38)
Conditions: Coronary Disease · Heart Diseases · Cardiovascular Diseases · Myocardial Ischemia·Matched via recall expansion
- NCT07369505·RECRUITING·Sapu003 in Advanced mTOR-sensitive Solid Tumors
Conditions: Breast Cancer Metastatic · Renal Cell Carcinoma (RCC) · Neuroendocrine Tumors · Tuberous Sclerosis Complex (TSC)·Matched via recall expansion
- NCT07203664·NOT YET RECRUITING·Use of Tacrolimus and MTOR Inhibitors With Anticipatory Therapy vs. Tacrolimus and Mycophenolic Acid With Universal Prophylaxis in Renal Recipients at High Risk of Posttransplant Cytomegalovirus.
Conditions: Evaluate the Effectiveness of CMV Prevention Strategies in Kidney Transplant Recipients·Matched via recall expansion
- NCT05997056·RECRUITING·Trial of Nab-sirolimus in Patients With Well-differentiated Neuroendocrine Tumors (NETs) of the Gastrointestinal Tract, Lung, or Pancreas Who Have Not Received Prior Treatment With mTOR Inhibitors
Conditions: Neuroendocrine Tumors · NET · Pancreatic Neuroendocrine Tumor · Gastrointestinal Neuroendocrine Tumor·Matched via recall expansion
- NCT06727305·RECRUITING·MTOR Inhibitors in Older Adults
Conditions: Aging·Matched via recall expansion
- NCT05233722·RECRUITING·mTOR as Mediator of Insulin Sensitivity Study
Conditions: Insulin Sensitivity·Matched via recall expansion
- NCT05414292·RECRUITING·Impacts of Mechanistic Target of Rapamycin (mTOR) Inhibition on Aged Human Muscle (Rapamune)
Conditions: Muscle Atrophy · Age-Related Sarcopenia·Matched via recall expansion
- NCT06584773·RECRUITING·Efficacy of a Quadruple Immunosuppressor Regimen With mTOR Inhibitors in Sensitized Kidney Transplant Patients
Conditions: Disorder Related to Renal Transplantation·Matched via recall expansion
- NCT07662174·NOT YET RECRUITING·Ventricular mTOR Inhibition to Prevent Hydrocephalus After Brain Hemorrhage
Conditions: Post-hemorrhagic Hydrocephalus (PHH)·Matched via recall expansion
- NCT07173556·NOT YET RECRUITING·A Phase Ib/II Study of QLC1401 Combined With CDK4/6 or mTOR Inhibitors in ER+/HER2- Advanced Breast Cancer
Conditions: Advanced Breast Cancer·Matched via recall expansion
- NCT07166354·NOT YET RECRUITING·Clinical Study of mTOR Inhibitor as a Treatment for Grey Hair (Canities)
Conditions: Canities · Grey Hair·Matched via recall expansion
Observational and natural-history studies
10 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT04395495·RECRUITING·RASopathy Biorepository
Conditions: RAS Mutation · Neurofibromatosis 1 · Noonan Syndrome · Noonan Syndrome With Multiple Lentigines·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.
"Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" OR "MINDS syndrome" OR "Smith-Kingsmore syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" OR "MINDS syndrome" OR "Smith-Kingsmore syndrome" OR "MTOR"
Recall-expansion terms: MTOR
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 61 interventional · 10 observational · 1 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T16:51:47.755Z