ORPHA:398189
Focal facial dermal dysplasia type IV
Also known as: FFDD type IV · FFDD4 · Focal facial dermal dysplasia 4 · Focal facial preauricular dysplasia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
22
32.9th percentile
Trials
0
Interventional, condition-specific
Researchers
137
Distinct authors in sample
Gene link
CYP26C1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Focal facial dermal type IV (FFDD4) is a rare focal facial (FFDD), characterized by isolated preauricular and/or cheek blister scar-like lesions.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013997
- OMIM:614974
- UMLS:C3554246
Additional Mondo synonyms (3)
focal Facial dermal dysplasia type 4 · focal facial dermal dysplasia 4 · focal facial preauricular dysplasia
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
Strong — CYP26C1
- LiteraturePresent
22 matched papers (15 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 (CYP26C1).
GenCC classification: Strong.
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?
22
22 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.
22 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).
15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)
Phrase hits: 22 · MeSH hits: 0
Who's working on it?
137
Distinct author names in 22 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.
- 01Desnick RJ5 papers · 2018
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 02Lee BH3 papers · 2018
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 03Nazarenko I3 papers · 2015
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 04Chen B2 papers · 2018
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.
Papers in Europe PMC - 05Devriendt K2 papers · 2025
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Papers in Europe PMC - 06Kedishvili NY2 papers · 2016
Department of Biochemistry and Molecular Genetics, Schools of Medicine and Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA. nkedishvili@uab.edu
Papers in Europe PMC - 07Aggarwal A1 paper · 2017
Department of Structural and Chemical Biology, Icahn School of Medicine at Mount Sinai, New York, USA.
Papers in Europe PMC - 08Aggarwal AK1 paper · 2015
Department of Structural and Chemical Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 09Bedwell PS1 paper · 2020
American Hereford Association, Breed Improvement, Kansas City, MO 64048, USA.
Papers in Europe PMC - 10Bekerecioglu M1 paper · 2015
Department of Plastic, Reconstructive and Aesthetic Surgery, Necmettin Erbakan University, Meram Faculty of Medicine, Konya, Turkey.
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.
Broader category focal facial dermal dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: focal facial dermal dysplasia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Focal facial dermal dysplasia type IV" OR "FFDD type IV" OR "FFDD4" OR "Focal facial dermal dysplasia 4" OR "Focal facial preauricular dysplasia" OR "focal Facial dermal dysplasia type 4"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Focal facial dermal dysplasia type IV" OR "FFDD type IV" OR "FFDD4" OR "Focal facial dermal dysplasia 4" OR "Focal facial preauricular dysplasia" OR "focal Facial dermal dysplasia type 4" OR "CYP26C1" OR "ectodermal dysplasia syndrome"
Recall-expansion terms: CYP26C1, ectodermal dysplasia syndrome
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"focal facial dermal dysplasia"
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 2026-07-27T15:21:28.815Z