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ORPHA:2526

Microcephaly-chorioretinopathy-lymphedema syndrome

low confidenceDisorder

Publications

4,265

Trials

0

Interventional, condition-specific

Researchers

729

Distinct authors in sample

Gene link

KIF11

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Microcephaly with or without chorioretinopathy, lymphedema or (MCLID) is a rare condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, lymphedema of the lower limbs, and mild to moderate .

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

KIF11-associated disorder · MCLMR · MLCRD · MLCRD syndrome · lymphedema, microcephaly and chorioretinopathy syndrome · microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability · microcephaly with or without chorioretinopathy, lymphedema, or mental retardation · microcephaly, lymphedema, chorioretinal dysplasia 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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — KIF11

  2. LiteraturePresent

    4,265 matched papers (3,015 in last 10 years) Source

  3. Phenotype characterisedPresent

    106 HPO annotations (e.g. Retinal dysplasia; Panniculitis; Gangrene) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 5 for broader category microcephaly

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 (KIF11).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

106

Associated phenotypes · MONDO:0007918

  • Retinal dysplasia
  • Panniculitis
  • Gangrene
  • Microcephaly
  • Edema

Showing 5 of 106 — 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)

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?

4,265

4,265 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.

4,265 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).

3,015 in the last 10 years · low confidence

Phrase hits: 105 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

729

Distinct author names in 105 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.

  1. 01
    Ostergaard P8 papers · 2026

    Human Genetics, Cardiovascular and Cell Sciences Institute, St. George's University of London, London SW17 0RE, UK.

    Papers in Europe PMC
  2. 02
    Mansour S6 papers · 2026

    Department of Clinical Genetics, St Georges Hospital and St George's, University of London, London, UK.

    Papers in Europe PMC
  3. 03
    Jeffery S5 papers · 2026

    Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.

    Papers in Europe PMC
  4. 04
    Moore AT5 papers · 2020

    Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK; Ophthalmology Department, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK.

    Papers in Europe PMC
  5. 05
    Zhang X5 papers · 2023

    I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia.

    Papers in Europe PMC
  6. 06
    Chen Y4 papers · 2026

    Department of Neonatal Medicine, Xin-Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  7. 07
    Li J4 papers · 2022

    Luzhou Key Laboratory of Oral and Maxillofacial Reconstruction and Regeneration, The Affiliated Stomatological Hospital of Southwest Medical University, Luzhou 646000, China.

    Papers in Europe PMC
  8. 08
    Vikkula M4 papers · 2015

    Laboratory of Human Molecular Genetics, de Duve Institute, Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, Brussels, Belgium.

    Papers in Europe PMC
  9. 09
    Zhang Y4 papers · 2025

    Center for Cell Structure and Function, Shandong Provincial Key Laboratory of Animal Resistance Biology, Haihe Laboratory of Cell Ecosystem, College of Life Sciences, Shandong Normal University, Jinan, 250014, China.

    Papers in Europe PMC
  10. 10
    Zhao P4 papers · 2022

    Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.

    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). 5 trials are registered for microcephaly, 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.

5 interventional trials matched microcephaly, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: microcephaly

5

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

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 Microcephaly-chorioretinopathy-lymphedema syndrome — 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.

("Microcephaly-chorioretinopathy-lymphedema syndrome" OR "KIF11-associated disorder" OR "MCLMR" OR "MLCRD" OR "MLCRD syndrome" OR "lymphedema, microcephaly and chorioretinopathy syndrome" OR "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" OR "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" OR "microcephaly, lymphedema, chorioretinal dysplasia syndrome") OR ("KIF11" OR "KIF11 syndrome" OR "KIF11-related")

Run this search on Europe PMC

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

"Microcephaly-chorioretinopathy-lymphedema syndrome" OR "KIF11-associated disorder" OR "MCLMR" OR "MLCRD" OR "MLCRD syndrome" OR "lymphedema, microcephaly and chorioretinopathy syndrome" OR "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" OR "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" OR "microcephaly, lymphedema, chorioretinal dysplasia syndrome"

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

Parent-category trials query:

"microcephaly"

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
  • Publication count (4265) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T20:27:07.183Z