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ORPHA:1997

Blepharo-cheilo-odontic syndrome

high confidenceDisorder

Also known as: BCD syndrome · Blepharocheilodontic syndrome · Clefting-ectropion-conical teeth syndrome · Ectropion inferior-cleft lip and/or palate syndrome · Elschnig syndrome · Lagophthalmia-cleft lip and palate syndrome

Publications

180

59.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,389

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare ectodermal syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.

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.

Additional Mondo synonyms (7)

Elsching syndrome · blepharo-cheilo-odontic syndrome · blepharocheilodontic syndrome · clefting-ectropion-conical teeth syndrome · ectropion inferior-cleft lip and or palate syndrome · ectropion inferior-cleft lip and/or palate syndrome · lagophthalmia-cleft lip and palate 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

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

    180 matched papers (122 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Hypertelorism; Finger syndactyly; Euryblepharon) 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)

47

Associated phenotypes · MONDO:0007339

  • Hypertelorism
  • Finger syndactyly
  • Euryblepharon
  • Anal atresia
  • Epidermoid cyst

Showing 5 of 47 — 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?

180

180 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.

180 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).

122 in the last 10 years · high confidence · 59.9th percentile (publications denominator)

Phrase hits: 180 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,389

Distinct author names in 180 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
    Roscioli T5 papers · 2026

    Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, University of New South Wales, Randwick, NSW 2031, Australia; Neuroscience Research Australia, Sydney, NSW 2031, Australia. Electronic address: tony.roscioli@health.nsw.gov.au.

    Papers in Europe PMC
  2. 02
    Cox TC3 papers · 2021

    Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Developmental Biology & Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Anatomy & Developmental Biology, Monash University, Clayton, VIC 3800, Australia. Electronic address: tccox@uw.edu.

    Papers in Europe PMC
  3. 03
    Gil-da-Silva-Lopes VL3 papers · 2025

    Department of Medical Genetics, University of Campinas, São Paulo, Brazil.

    Papers in Europe PMC
  4. 04
    Hurst JA3 papers · 2020

    Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK.

    Papers in Europe PMC
  5. 05
    Li D3 papers · 2021

    Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

    Papers in Europe PMC
  6. 06
    Li H3 papers · 2025

    School and Hospital of Stomatology, Liaoning Provincial Key Laboratory of Oral Diseases, China Medical University, Shenyang, Liaoning Province, China. lihongjun_120@163.com.

    Papers in Europe PMC
  7. 07
    Li L3 papers · 2025

    Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.

    Papers in Europe PMC
  8. 08
    Liu Y3 papers · 2025

    Department of Obstetrics and Chongqing Fetal Medical Centre, The First Affiliated Hospital of Chongqing Medical University, 1 Youyi Road, Yuzhong, Chongqing, 400016, People's Republic of China.

    Papers in Europe PMC
  9. 09
    Murray JC3 papers · 2020

    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.

    Papers in Europe PMC
  10. 10
    Wang J3 papers · 2025

    School and Hospital of Stomatology, Liaoning Provincial Key Laboratory of Oral Diseases, China Medical University, Shenyang, Liaoning Province, 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

high 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.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Blepharo-cheilo-odontic syndrome — 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.

"Blepharo-cheilo-odontic syndrome" OR "BCD syndrome" OR "Blepharocheilodontic syndrome" OR "Clefting-ectropion-conical teeth syndrome" OR "Ectropion inferior-cleft lip and/or palate syndrome" OR "Elschnig syndrome" OR "Lagophthalmia-cleft lip and palate syndrome" OR "Elsching syndrome" OR "ectropion inferior-cleft lip and or palate syndrome"

Run this search on Europe PMC

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

"Blepharo-cheilo-odontic syndrome" OR "BCD syndrome" OR "Blepharocheilodontic syndrome" OR "Clefting-ectropion-conical teeth syndrome" OR "Ectropion inferior-cleft lip and/or palate syndrome" OR "Elschnig syndrome" OR "Lagophthalmia-cleft lip and palate syndrome" OR "Elsching syndrome" OR "ectropion inferior-cleft lip and or palate syndrome"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Ingested 2026-07-26T18:42:22.247Z