ORPHA:1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Also known as: AEC syndrome · Hay-Wells syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
430
78.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,141
Distinct authors in sample
Gene link
TP63
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
An ectodermal syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007124
- MeSH:C535847
- OMIM:106260
- UMLS:C0406709
Additional Mondo synonyms (1)
AEC 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.”
2/6 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.
- Gene identifiedPresent
Definitive — TP63
- LiteraturePresent
430 matched papers (199 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?
Yes — we know a specific gene responsible (TP63).
GenCC classification: Definitive.
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?
430
430 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=5449) is 41.
430 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).
199 in the last 10 years · high confidence · 78.6th percentile (publications denominator)
Phrase hits: 430 · MeSH hits: 0
Who's working on it?
1,141
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.
- 01
- 02van Bokhoven H9 papers · 2019
f Department of Human Genetics , Radboud University Medical Center , Nijmegen , The Netherlands.
Papers in Europe PMC - 03Dötsch V8 papers · 2025
Biochemistry, Chemistry and Pharmacy, Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, Frankfurt, Germany.
Papers in Europe PMC - 04Koster MI8 papers · 2023
Department of Dermatology, University of Colorado School of Medicine and Charles C Gates Center for Regenerative Medicine and Stem Cell Biology, University of Colorado School of Medicine , Aurora, CO , USA.
Papers in Europe PMC - 05Antonini D7 papers · 2026
Department of Biology, University of Naples Federico II, 80126 Naples, Italy.
Papers in Europe PMC - 06Bree AF7 papers · 2018
Department of Pediatric Dermatology, Texas Children's Hospital, Baylor College of Medicine, 6621 Fannin Street CC 620.16, Houston, TX 77030, USA. afbree@bcm.tmc.edu
Papers in Europe PMC - 07Zhou H7 papers · 2021
Department of Molecular Developmental Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands.
Papers in Europe PMC - 08Koch PJ6 papers · 2023
Department of Dermatology, University of Colorado School of Medicine, Aurora, Colorado; Department of Cell and Developmental Biology, University of Colorado School of Medicine, Aurora, Colorado; Charles C. Gates Center for Regenerative Medicine and Stem Cell Biology, University of Colorado School of Medicine, Aurora, Colorado; Graduate Program in Cell Biology, Stem Cells and Development, University of Colorado School of Medicine, Aurora, Colorado.
Papers in Europe PMC - 09Melino G6 papers · 2025
Department of Experimental Medicine, TOR, University of Rome 'Tor Vergata', Rome, Italy.
Papers in Europe PMC - 10Candi E5 papers · 2025
Department of Experimental Medicine, TOR, University of Rome 'Tor Vergata', Rome, Italy.
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 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.
high 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.
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.
"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" OR "AEC syndrome" OR "Hay-Wells syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" OR "AEC syndrome" OR "Hay-Wells syndrome" OR "TP63" OR "ectodermal dysplasia syndrome" OR "TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations"
Recall-expansion terms: TP63, ectodermal dysplasia syndrome, TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T16:20:25.230Z