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ORPHA:398166

Focal facial dermal dysplasia

medium confidenceDisorder

Also known as: FFDD

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

358

69.8th percentile

Trials

0

Interventional, condition-specific

Researchers

1,057

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.

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.

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    358 matched papers (221 in last 10 years) Source

  3. Phenotype characterisedPresent

    88 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

88

Associated phenotypes · MONDO:0018363

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

Showing 5 of 88 — 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 2026-07-27

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?

358

358 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=3967) is 59.

358 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).

221 in the last 10 years · medium confidence · 69.8th percentile (publications denominator)

Phrase hits: 358 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,057

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.

  1. 01
    Wang Y12 papers · 2026

    Department of Nephropathy, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  2. 02
    Li X9 papers · 2025

    Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin 300120, China.

    Papers in Europe PMC
  3. 03
    Wang L9 papers · 2024

    Department of Endocrinology and Metabolism, Jiangsu Province Hospital of Traditional Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210023, P.R. China.

    Papers in Europe PMC
  4. 04
    Zhang Y9 papers · 2025

    Anhui Province Key Laboratory of Biological Macro-molecules Research (Wannan Medical College), Wuhu, China.

    Papers in Europe PMC
  5. 05
    Desnick RJ8 papers · 2021

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

    Papers in Europe PMC
  6. 06
    Li J8 papers · 2026

    Department of Endocrinology, Caoxian People's Hospital, East Qinghe Road, South Fumin Avenue, Caoxian Development Zone, Heze City 274400, Shandong Province, China.

    Papers in Europe PMC
  7. 07
    Li W8 papers · 2024

    Department of Nephrology, China-Japan Friendship Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Chen X7 papers · 2025

    Department of Endocrinology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.

    Papers in Europe PMC
  9. 09
    Liu Y7 papers · 2026

    Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang, China.

    Papers in Europe PMC
  10. 10
    Liu Z7 papers · 2026

    Department of Nephrology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 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 9 September 2026 · last trial check 9 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.

medium 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 2026-07-27

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 — 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"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Focal facial dermal dysplasia

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

"Focal facial dermal dysplasia" OR "[OBSOLETE] Focal facial dermal dysplasia"

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

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FFDD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T02:29:15.110Z