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ORPHA:710

Pfeiffer syndrome

low confidenceDisorder

Also known as: ACS5 · Acrocephalosyndactyly type 5

Publications

1,084

Trials

0

Interventional, condition-specific

Researchers

1,029

Distinct authors in sample

Gene link

FGFR1, FGFR2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.

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 (3)

acrocephalosyndactyly type 5 · acrocephalosyndactyly type V · type V Acrocephalosyndactyly

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 — FGFR1, FGFR2

  2. LiteraturePresent

    1,084 matched papers (519 in last 10 years) Source

  3. Phenotype characterisedPresent

    144 HPO annotations (e.g. Mandibular prognathia; Hypertelorism; Hypoplasia of the zygomatic bone) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) 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 (FGFR1, FGFR2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

144

Associated phenotypes · MONDO:0007043

  • Mandibular prognathia
  • Hypertelorism
  • Hypoplasia of the zygomatic bone
  • Flat face
  • High palate

Showing 5 of 144 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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?

1,084

1,084 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.

1,084 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).

519 in the last 10 years · low confidence

Phrase hits: 1,084 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,029

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.

  1. 01
    Denadai R5 papers · 2021

    From the Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas; and the Department of Neurology, University of Campinas.

    Papers in Europe PMC
  2. 02
    Ghizoni E5 papers · 2021

    From the Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas; and the Department of Neurology, University of Campinas.

    Papers in Europe PMC
  3. 03
    Khonsari RH5 papers · 2025

    From the Craniofacial Unit, Great Ormond Street Hospital for Children NHS Foundation Trust; Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants-Malades, Service de Chirurgie Maxillofaciale et Plastique, Université Paris Descartes; and the Centre for Image Analysis, Uppsala University.

    Papers in Europe PMC
  4. 04
    Raposo-Amaral CA5 papers · 2021

    From the Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas; and the Department of Neurology, University of Campinas.

    Papers in Europe PMC
  5. 05
    Raposo-Amaral CE5 papers · 2021

    From the Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas; and the Department of Neurology, University of Campinas.

    Papers in Europe PMC
  6. 06
    Alonso N4 papers · 2022

    Department of Plastic Surgery, University of São Paulo, São Paulo, Brazil. Electronic address: nivalonso@gmail.com.

    Papers in Europe PMC
  7. 07
    Alperovich M4 papers · 2022

    Division of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, CT, USA. Electronic address: michael.alperovich@yale.edu.

    Papers in Europe PMC
  8. 08
    Lu X4 papers · 2022

    Division of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, CT, USA. Electronic address: xiaona.lu@yale.edu.

    Papers in Europe PMC
  9. 09
    Persing JA4 papers · 2022

    Section of Plastic Surgery, Yale School of Medicine, New Haven, CT, USA.

    Papers in Europe PMC
  10. 10
    Tonello C4 papers · 2022

    Department of Craniofacial Surgery, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, São Paulo, Brazil. Electronic address: cristianotonello@usp.br.

    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.

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.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Pfeiffer 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.

"Pfeiffer syndrome" OR "Acrocephalosyndactyly type 5" OR "acrocephalosyndactyly type V" OR "type V Acrocephalosyndactyly"

Run this search on Europe PMC

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

"Pfeiffer syndrome" OR "Acrocephalosyndactyly type 5" OR "acrocephalosyndactyly type V" OR "type V Acrocephalosyndactyly"

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

Synonyms dropped by stoplist: ACS5

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:59:21.409Z