ORPHA:710
Pfeiffer syndrome
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
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007043
- OMIM:101600
- UMLS:C0220658
- NCIT:C99100
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.”
2/6 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.
- Gene identifiedPresent
Definitive — FGFR1, FGFR2
- LiteraturePresent
1,084 matched papers (519 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
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=5449) is 41.
1,084 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
519 in the last 10 years · low confidence
Phrase hits: 1,084 · MeSH hits: 0
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.
- 01Denadai 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 - 02Ghizoni 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 - 03Khonsari 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 - 04Raposo-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 - 05Raposo-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 - 06Alonso N4 papers · 2022
Department of Plastic Surgery, University of São Paulo, São Paulo, Brazil. Electronic address: nivalonso@gmail.com.
Papers in Europe PMC - 07Alperovich 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 - 08Lu 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 - 09Persing JA4 papers · 2022
Section of Plastic Surgery, Yale School of Medicine, New Haven, CT, USA.
Papers in Europe PMC - 10Tonello 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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
- NCT07535372·NOT YET RECRUITING·ASO Treatment for Syndromic Craniosynostoses
Conditions: Craniosynostoses · Crouzon Syndrome · Saethre Chotzen Syndrome · Muenke Syndrome·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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