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ORPHA:1897

EEM syndrome

low confidenceDisorder

Also known as: Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Publications

2,693

Trials

0

Interventional, condition-specific

Researchers

242

Distinct authors in sample

Gene link

CDH3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare ectodermal syndrome characterized by the association of ectodermal (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.

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 (1)

ectodermal dysplasia-ectrodactyly-macular dystrophy 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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — CDH3

  2. LiteraturePresent

    2,693 matched papers (1,892 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Strabismus; Retinopathy; Abnormality of vision) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (CDH3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

33

Associated phenotypes · MONDO:0009155

  • Strabismus
  • Retinopathy
  • Abnormality of vision
  • Carious teeth
  • Widely spaced teeth

Showing 5 of 33 — 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?

2,693

2,693 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.

2,693 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).

1,892 in the last 10 years · low confidence

Phrase hits: 53 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

242

Distinct author names in 53 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
    Christiano AM2 papers · 2010
    Papers in Europe PMC
  2. 02
    Kjaer KW2 papers · 2010

    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark. klaus@medgen.ku.dk

    Papers in Europe PMC
  3. 03
    Kurban M2 papers · 2022

    American University of Beirut mk104@aub.edu.lb.

    Papers in Europe PMC
  4. 04
    Marques-de-Faria AP2 papers · 2005
    Papers in Europe PMC
  5. 05
    Paredes J2 papers · 2021

    Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal. jparedes@ipatimup.pt.

    Papers in Europe PMC
  6. 06
    Shimomura Y2 papers · 2010

    Department of Dermatology, Columbia University, New York, NY 10032, USA.

    Papers in Europe PMC
  7. 07
    Wajid M2 papers · 2010
    Papers in Europe PMC
  8. 08
    Werth VP2 papers · 2025

    Corporal Michael J. Crescenz Veterans Affairs Medical Center and University of Pennsylvania, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  9. 09
    Abali S1 paper · 2017

    Dr.Lutfi Kirdar Kartal Training and Research Hospital, Department of Pediatrics, Pediatric Endocrinology Division, Istanbul, Turkey.

    Papers in Europe PMC
  10. 10
    Abdulmannan DM1 paper · 2022

    Ophthalmology Department, Faculty of Medicine, Umm Alqura University, Makkah, Saudi Arabia.

    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).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 EEM 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.

("EEM syndrome" OR "Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome") OR ("CDH3" OR "CDH3 syndrome" OR "CDH3-related" OR "EEM-related")

Run this search on Europe PMC

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

"EEM syndrome" OR "Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"

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

Query 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
  • Publication count (2693) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T18:26:08.426Z