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ORPHA:920

Ablepharon macrostomia syndrome

low confidenceDisorder

Also known as: AMS

Publications

3,513

Trials

0

Interventional, condition-specific

Researchers

984

Distinct authors in sample

Gene link

TWIST2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare characterized by absent or severely underdeveloped eyelids (ablepharon), a lateral enlargement of the mouth (macrostomia), malformed external ears, and redundant skin folds.

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 (2)

Ablepharon-Macrostomia Syndrome · ablepharon-macrostomia 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — TWIST2

  2. LiteraturePresent

    3,513 matched papers (2,669 in last 10 years) Source

  3. Phenotype characterisedPresent

    76 HPO annotations (e.g. Ambiguous genitalia; Atresia of the external auditory canal; Myopia) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio) Source

  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: Definitive.

Phenotypes (Monarch / HPO)

76

Associated phenotypes · MONDO:0008693

  • Ambiguous genitalia
  • Atresia of the external auditory canal
  • Myopia
  • Absent eyelashes
  • Microdontia

Showing 5 of 76 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

3,513

3,513 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.

3,513 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).

2,669 in the last 10 years · low confidence

Phrase hits: 79 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

984

Distinct author names in 79 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
    Gül T5 papers · 2016

    Department of Obstetrics and Gynecology, Dicle University School of Medicine, Diyarbakır, Turkey

    Papers in Europe PMC
  2. 02
    Qin W5 papers · 2025

    Laboratory of Chemical Genomics, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, 518055, China. qinwei@pkusz.edu.cn.

    Papers in Europe PMC
  3. 03
    Toğrul C5 papers · 2016

    Department of Obstetrics and Gynecology, Zekai Tahir Burak Women’s Health and Research Hospital, Ankara, Turkey

    Papers in Europe PMC
  4. 04
    Yılmaz N5 papers · 2016

    Zekai Tahir Burak Obstetrics and Gynecology Training and Research Hospital, Ankara, Turkey

    Papers in Europe PMC
  5. 05
    Zenker M5 papers · 2017

    Medizinische Fakultät und Universitätsklinikum Magdeburg, Institute of Human Genetics, 39120 Magdeburg, Germany.

    Papers in Europe PMC
  6. 06
    Ağaçayak E4 papers · 2016

    Department of Obstetrics and Gynecology, Dicle University School of Medicine, Diyarbakır, Turkey

    Papers in Europe PMC
  7. 07
    Brancati F4 papers · 2017

    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

    Papers in Europe PMC
  8. 08
    Çoşkun B4 papers · 2016

    Clinic of Gynecology and Obstetrics, Polatlı Duatepe State Hospital, Ankara, Turkey

    Papers in Europe PMC
  9. 09
    Erel Ö4 papers · 2016

    Department of Biochemistry, Yıldırım Beyazıt University School of Medicine, Ankara, Turkey

    Papers in Europe PMC
  10. 10
    Ferraz VE4 papers · 2013

    Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.

    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 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 Ablepharon macrostomia 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.

("Ablepharon macrostomia syndrome" OR "Ablepharon-Macrostomia 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):

"Ablepharon macrostomia syndrome" OR "Ablepharon-Macrostomia Syndrome"

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

Synonyms dropped by stoplist: AMS

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
  • Publication count (3513) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:55:13.475Z