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ORPHA:141258

Tessier number 4 facial cleft

low confidenceDisorder

Publications

695

Trials

0

Interventional, condition-specific

Researchers

42

Distinct authors in sample

Gene link

SPECC1L

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare oblique facial cleft characterized by a unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.

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 (1)

facial clefting, oblique, type 1

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

    Limited — SPECC1L

  2. LiteraturePresent

    695 matched papers (556 in last 10 years) Source

  3. Phenotype characterisedPresent

    7 HPO annotations (e.g. Cleft upper lip; Deep palmar crease; Coloboma) 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?

Possibly — only limited evidence so far for SPECC1L.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

7

Associated phenotypes · MONDO:0010850

  • Cleft upper lip
  • Deep palmar crease
  • Coloboma
  • Tessier number 4 facial cleft
  • Cleft palate

Showing 5 of 7 — 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?

695

695 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.

695 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).

556 in the last 10 years · low confidence

Phrase hits: 5 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

42

Distinct author names in 5 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
    Amudhavalli SM1 paper · 2019

    Division of Clinical Genetics, Children's Mercy Hospital, University of Missouri Kansas City, School of Medicine, Kansas City, MO, United States.

    Papers in Europe PMC
  2. 02
    Astiazaran MC1 paper · 2019

    Genetics Department, Research Unit-Genetics Department, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico.

    Papers in Europe PMC
  3. 03
    Bellynda M1 paper · 2023

    Department of Surgery, Universitas Sebelas Maret, Dr. Moewardi General Hospital Surakarta, Indonesia.

    Papers in Europe PMC
  4. 04
    Bhoj EJ1 paper · 2019

    Department of Genetics, Children's Hospital of Philadelphia, United States; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

    Papers in Europe PMC
  5. 05
    Bogaard P1 paper · 2019

    Department of Pathology, Aalborg University Hospital, Aalborg, Denmark.

    Papers in Europe PMC
  6. 06
    Bonneau D1 paper · 2019

    Department of Biochemistry and Genetics, UMR CNRS 6015 INSERM 1083, University Hospital, Angers, France.

    Papers in Europe PMC
  7. 07
    Budihardja AS1 paper · 2020

    Department of Oral and Maxillofacial Surgery, Siloam Hospital Lippo Village, University of Pelita Harapan, Jakarta, Indonesia.

    Papers in Europe PMC
  8. 08
    Callier P1 paper · 2019

    Clinical Genetics Department, Coimbra Paediatric Hospital, Coimbra, Portugal.

    Papers in Europe PMC
  9. 09
    Carvalho A1 paper · 2019

    Clinical Genetics Department, Coimbra Paediatric Hospital, Coimbra, Portugal.

    Papers in Europe PMC
  10. 10
    Drunat S1 paper · 2019

    Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.

    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.

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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · dropped 0 · fetched 2026-07-30

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 (59)

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 Tessier number 4 facial cleft — 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.

("Tessier number 4 facial cleft" OR "facial clefting, oblique, type 1") OR ("SPECC1L" OR "SPECC1L syndrome" OR "SPECC1L-related")

Run this search on Europe PMC

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

"Tessier number 4 facial cleft" OR "facial clefting, oblique, type 1"

Study-type breakdown: 0 interventional · 0 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
  • Publication count (695) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:56:13.555Z