ORPHA:79452
Milroy disease
Also known as: Hereditary lymphedema type I · Nonne-Milroy lymphedema
Clinical definition (Orphanet)
Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early period.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
279
279 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=183) is 38.
279 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
156 in the last 10 years · medium confidence · 77.9th percentile (publications denominator)
Is a treatment being tested?
0
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).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
1,051
Distinct author names in 200 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.
- 01Mansour S18 papers · 2026
South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.
Papers in Europe PMC - 02Ostergaard P15 papers · 2026
Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.
Papers in Europe PMC - 03Gordon K12 papers · 2026
Department of Clinical Sciences, St George's University of London, London, UK.
Papers in Europe PMC - 04Jeffery S12 papers · 2026
Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.
Papers in Europe PMC - 05Vikkula M11 papers · 2024
Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium
Papers in Europe PMC - 06Brice G9 papers · 2015
South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.
Papers in Europe PMC - 07Mortimer P9 papers · 2026
Lymphovascular Research Unit, Division of Cardiovascular and Cell Sciences, St George's, University of London, London, UK.
Papers in Europe PMC - 08Mortimer PS9 papers · 2025
Department of Clinical Sciences, St George's University of London, London, UK.
Papers in Europe PMC - 09Boon LM8 papers · 2024
Department of Plastic Surgery, Children's Hospital, Harvard Medical School, Boston, Mass., USA
Papers in Europe PMC - 10Brouillard P6 papers · 2024
Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below but are not added to the query string.
"Milroy disease" OR "Hereditary lymphedema type I" OR "Nonne-Milroy lymphedema"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Milroy disease" OR "Hereditary lymphedema type I" OR "Nonne-Milroy lymphedema"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
0Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus