ORPHA:1896
EEC syndrome
Also known as: Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
Publications
598
81th percentile
Trials
0
Interventional, condition-specific
Researchers
1,050
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal , and orofacial clefts (cleft lip/palate).
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010004
- MeSH:C536189
- OMIM:268650
- UMLS:C0406704
- NCIT:C148261
Additional Mondo synonyms (3)
Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate · ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome · ectrodactyly-ectodermal dysplasia-cleft 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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
598 matched papers (235 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 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
598
598 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=5449) is 41.
598 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).
235 in the last 10 years · medium confidence · 81th percentile (publications denominator)
Phrase hits: 598 · MeSH hits: 0
Who's working on it?
1,050
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.
- 01van Bokhoven H7 papers · 2017
Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Papers in Europe PMC - 02Wang Y7 papers · 2025
Ningxia Key Laboratory of Oral Disease Research, Ningxia Key Laboratory of Craniomaxillofacial Deformities Research, School of Stomatology, Ningxia Medical University, Yinchuan 750004, China.
Papers in Europe PMC - 03Zhou H7 papers · 2023
Departments of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.
Papers in Europe PMC - 04
- 05Di Iorio E4 papers · 2026
Department of Molecular Medicine, University of Padua, Padua, Italy.
Papers in Europe PMC - 06Dötsch V4 papers · 2023
Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, 60438, Frankfurt, Germany. vdoetsch@em.uni-frankfurt.de.
Papers in Europe PMC - 07
- 08Schneider H4 papers · 2022
Center for Ectodermal Dysplasias Erlangen (CEDER), University Hospital Erlangen, 91054 Erlangen, Germany.
Papers in Europe PMC - 09
- 10Chen J3 papers · 2025
Department of Pathology, Renaissance School of Medicine, Stony Brook University, Stony Brook, New York, USA; Stony Brook Cancer Center, Stony Brook, New York, USA.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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.
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.
"EEC syndrome" OR "Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome" OR "Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate" OR "ectrodactyly-ectodermal dysplasia-cleft syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"EEC syndrome" OR "Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome" OR "Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate" OR "ectrodactyly-ectodermal dysplasia-cleft syndrome"
Study-type breakdown: 0 interventional · 1 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
Ingested 2026-07-26T18:25:50.501Z