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ORPHA:91411

Congenital ptosis

low confidenceDisorder

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

Publications

2,690

Trials

3

Interventional, condition-specific

Researchers

902

Distinct authors in sample

Gene link

ZFHX4

No Known Disease Relationship

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

ptosis is characterized by superior eyelid drop present at birth.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

congenital eyelid ptosis · congenital ptosis (disease)

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPartial

    No Known Disease Relationship — ZFHX4

  2. LiteraturePresent

    2,690 matched papers (1,720 in last 10 years) Source

  3. Phenotype characterisedPresent

    5 HPO annotations (e.g. Congenital ptosis; Ptosis; Duane anomaly) 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 trialPresent

    3 matched on ClinicalTrials.gov (1 recruiting in sample)

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)

5

Associated phenotypes · MONDO:0008340

  • Congenital ptosis
  • Ptosis
  • Duane anomaly
  • Compensatory chin elevation

Showing 4 of 5 — 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?

2,690

2,690 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.

2,690 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).

1,720 in the last 10 years · low confidence

Phrase hits: 1,458 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

902

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Diab MM7 papers · 2026

    Department of Ophthalmology, Faculty of Medicine, Fayoum University, Al-Fayoum, Egypt.

    Papers in Europe PMC
  2. 02
    Rafizadeh SM7 papers · 2026

    Farabi Eye Research Center, Department of Oculofacial Plastic and Reconstructive Surgery, Farabi Eye Hospital, Tehran University of Medical Sciences, South Kargar Street, Qazvin Square, Tehran, 1336616351, Iran. mohsen_raf1354@yahoo.com.

    Papers in Europe PMC
  3. 03
    Cao J5 papers · 2026

    From the Department of Plastic and Reconstructive Surgery, Xijing Hospital, Fourth Military Medical University.

    Papers in Europe PMC
  4. 04
    Li Y5 papers · 2026

    Department of Ophthalmology, Pediatric Hospital Affiliated to Fudan University, Anhui Hospital, Anhui Children's Hospital, Hefei, China.

    Papers in Europe PMC
  5. 05
    Liu Z5 papers · 2026

    Department of Ophthalmology, Pediatric Hospital Affiliated to Fudan University, Anhui Hospital, Anhui Children's Hospital, Hefei, China.

    Papers in Europe PMC
  6. 06
    Wang X5 papers · 2026

    Department of Ophthalmology, Hunan Children's Hospital, No. 86 Ziyuan Road, Changsha City, Hunan Province, China.

    Papers in Europe PMC
  7. 07
    Alahmadawy YA4 papers · 2026

    Ophthalmology Department, Faculty of Medicine, Cairo University, Giza, Egypt. dr_y.alahmadawy@cu.edu.eg.

    Papers in Europe PMC
  8. 08
    Allen RC4 papers · 2026

    Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  9. 09
    Cang ZQ4 papers · 2025

    From the Department of Plastic and Reconstructive Surgery, Xijing Hospital, Fourth Military Medical University.

    Papers in Europe PMC
  10. 10
    Fan X4 papers · 2025

    From the Department of Plastic and Reconstructive Surgery, Xijing Hospital, Fourth Military Medical University.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 49 trials are registered for ptosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: ptosis

49

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

3 observational studies match 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Congenital ptosis — 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.

("Congenital ptosis" OR "congenital eyelid ptosis" OR "congenital ptosis (disease)") OR (MESH:"Ptosis, Hereditary Congenital 1") OR ("ZFHX4" OR "ZFHX4 syndrome" OR "ZFHX4-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ptosis, Hereditary Congenital 1

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

"Congenital ptosis" OR "congenital eyelid ptosis" OR "congenital ptosis (disease)" OR "Ptosis, Hereditary Congenital 1"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"ptosis"

Query health: suspect — strategies attempted: phrase, mesh; 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 (2690) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:01:52.013Z