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ORPHA:1807

Focal facial dermal dysplasia type III

low confidenceSubtype of disorder

Also known as: FFDD type III · FFDD3 · Focal facial dermal dysplasia 3, Setleis type · Setleis syndrome

Publications

3,507

Trials

0

Interventional, condition-specific

Researchers

507

Distinct authors in sample

Gene link

TWIST2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Focal facial dermal type III (FFDD3) is a rare focal facial dermal (FFDD), characterized primarily by bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

focal facial dermal dysplasia 3, Setleis type · focal facial dermal dysplasia type III

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

    Strong — TWIST2

  2. LiteraturePresent

    3,507 matched papers (2,666 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Downslanted palpebral fissures; Lacrimation abnormality; Downturned corners of mouth) 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 (TWIST2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

36

Associated phenotypes · MONDO:0009203

  • Downslanted palpebral fissures
  • Lacrimation abnormality
  • Downturned corners of mouth
  • Sparse lateral eyebrow
  • Prematurely aged appearance

Showing 5 of 36 — 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?

3,507

3,507 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.

3,507 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).

2,666 in the last 10 years · low confidence

Phrase hits: 86 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

507

Distinct author names in 86 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
    Desnick RJ10 papers · 2021

    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York.

    Papers in Europe PMC
  2. 02
    Cadilla CL7 papers · 2023

    Department of Biochemistry, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico, United States of America.

    Papers in Europe PMC
  3. 03
    Edelmann L4 papers · 2017

    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York.

    Papers in Europe PMC
  4. 04
    Franco HL4 papers · 2023

    Human Molecular Genetics Lab, Department of Biochemistry, School of Medicine University of Puerto Rico, Medical Sciences Campus, PO Box 365067, San Juan, PR 00936, USA.

    Papers in Europe PMC
  5. 05
    Lee BH4 papers · 2017

    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.

    Papers in Europe PMC
  6. 06
    Nazarenko I4 papers · 2015

    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York.

    Papers in Europe PMC
  7. 07
    Zhang S4 papers · 2023

    Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Al-Gazali LI2 papers · 2010

    Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, UAE.

    Papers in Europe PMC
  9. 09
    Atit RP2 papers · 2018

    Department of Biology, Case Western Reserve University, Cleveland, Ohio.

    Papers in Europe PMC
  10. 10
    Cao Q2 papers · 2022

    Department of Pathology and Pathophysiology, Zhejiang University School of Medicine, Hangzhou 310058, 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).

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.

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.

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 Focal facial dermal dysplasia type III — 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.

("Focal facial dermal dysplasia type III" OR "FFDD type III" OR "FFDD3" OR "Focal facial dermal dysplasia 3, Setleis type" OR "Setleis syndrome") OR ("TWIST2" OR "TWIST2 syndrome" OR "TWIST2-related")

Run this search on Europe PMC

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

"Focal facial dermal dysplasia type III" OR "FFDD type III" OR "FFDD3" OR "Focal facial dermal dysplasia 3, Setleis type" OR "Setleis 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: 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 (3507) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T18:12:15.779Z