ORPHA:398166
Focal facial dermal dysplasia
Also known as: FFDD
Query health: suspect — Only one of 3 strategies returned hits (phrase).
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.
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=183) is 38.
358 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
221 in the last 10 years · medium confidence · 82.8th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
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.
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.
- 01Wang Y12 papers · 2026
Department of Nephropathy, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 02Li X9 papers · 2025
Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin 300120, China.
Papers in Europe PMC - 03Wang 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 - 04Zhang Y9 papers · 2025
Anhui Province Key Laboratory of Biological Macro-molecules Research (Wannan Medical College), Wuhu, China.
Papers in Europe PMC - 05Desnick RJ8 papers · 2021
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 06Li 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 - 07Li W8 papers · 2024
Department of Nephrology, China-Japan Friendship Hospital, Beijing, China.
Papers in Europe PMC - 08Chen X7 papers · 2025
Department of Endocrinology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Papers in Europe PMC - 09Liu Y7 papers · 2026
Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang, China.
Papers in Europe PMC - 10Liu Z7 papers · 2026
Department of Nephrology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Focal facial dermal dysplasia"
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" OR "ectodermal dysplasia syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537068 UMLS:C2936827
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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