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ORPHA:2398

Multiple symmetric lipomatosis

high confidenceDisorder

Also known as: Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis · Launois-Bensaude lipomatosis · Madelung disease

Publications

768

77.3th percentile

Trials

1

Interventional, condition-specific

Researchers

946

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

Madelung's Disease · cephalothoracic lipodystrophy · cervical symmetrical lipomatosis · familial benign cervical lipomatosis · lipodystrophy, cephalothoracic · lipomatosis, familial benign cervical · multiple symmetric lipomatosis · multiple symmetrical lipomatosis

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    768 matched papers (324 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Paresthesia; Insulin resistance; Gait disturbance) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. 4-hydroxyandrostenedione;serenoa serrulata;alpha lipoic acid Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0007908

  • Paresthesia
  • Insulin resistance
  • Gait disturbance
  • Peripheral neuropathy
  • Diminished deep tendon reflex

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA 4-hydroxyandrostenedione;serenoa serrulata;alpha lipoic acidTreatment of multiple symmetric lipomatosis · 28/04/2016 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0007908

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

768

768 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.

768 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).

324 in the last 10 years · high confidence · 77.3th percentile (publications denominator)

Phrase hits: 768 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

946

Distinct author names in 200 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.

  1. 01
    Wang Y5 papers · 2026

    Department of Pathology, Second Affiliated Hospital of Kunming Medical University, Kunming, 650101, China.

    Papers in Europe PMC
  2. 02
    Herbst KL3 papers · 2022

    Department of Endocrinology and Research, Total Lipedema Care, Los Angeles, CA 90211, USA.

    Papers in Europe PMC
  3. 03
    Jannin A3 papers · 2024

    Endocrinology, Diabetology and Metabolism, CHU Lille, 59000 Lille, France.

    Papers in Europe PMC
  4. 04
    Lemaitre M3 papers · 2024

    Endocrinology, Diabetology and Metabolism, CHU Lille, 59000 Lille, France.

    Papers in Europe PMC
  5. 05
    Schiltz D3 papers · 2022

    Department of Plastic-, Hand-, and Reconstructive Surgery, University Hospital Regensburg, Regensburg, Germany.

    Papers in Europe PMC
  6. 06
    Vantyghem MC3 papers · 2024

    Endocrinology, Diabetology and Metabolism, CHU Lille, 59000 Lille, France.

    Papers in Europe PMC
  7. 07
    Zhang Y3 papers · 2024

    Department of Ultrasound, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu 610072, Sichuan Province, China.

    Papers in Europe PMC
  8. 08
    Zhao S3 papers · 2022

    Department of Endocrinology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, People's Republic of China.

    Papers in Europe PMC
  9. 09
    Allin E2 papers · 2022

    Adult Metabolic Diseases Clinic, Vancouver General Hospital, Canada.

    Papers in Europe PMC
  10. 10
    Anker A2 papers · 2020

    Department of Plastic-, Hand-, and Reconstructive Surgery, University Hospital Regensburg, Regensburg, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 3 trials are registered for lipomatosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: lipomatosis

3

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.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Multiple symmetric lipomatosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Multiple symmetric lipomatosis" OR "Cephalothoracic lipodystrophy" OR "Familial benign cervical lipomatosis" OR "Launois-Bensaude lipomatosis" OR "Madelung disease" OR "Madelung's Disease" OR "cervical symmetrical lipomatosis" OR "lipodystrophy, cephalothoracic" OR "lipomatosis, familial benign cervical" OR "multiple symmetrical lipomatosis"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Multiple symmetric lipomatosis" OR "Cephalothoracic lipodystrophy" OR "Familial benign cervical lipomatosis" OR "Launois-Bensaude lipomatosis" OR "Madelung disease" OR "Madelung's Disease" OR "cervical symmetrical lipomatosis" OR "lipodystrophy, cephalothoracic" OR "lipomatosis, familial benign cervical" OR "multiple symmetrical lipomatosis"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"lipomatosis"

Query health: ok — strategies attempted: phrase; 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 2026-07-26T20:04:54.777Z