ORPHA:718
Isolated Pierre Robin sequence
Also known as: PRS
Publications
41,083
99.1th percentile
Trials
1
Interventional, condition-specific
Researchers
1,026
Distinct authors in sample
Gene link
SOX9
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, head and neck characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009869
- MeSH:D010855
- OMIM:261800
- UMLS:C0031900
- NCIT:C85010
Additional Mondo synonyms (2)
Pierre Robin Sequence · isolated Pierre Robin sequence
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.
- Gene identifiedPresent
Definitive — SOX9
- LiteraturePresent
41,083 matched papers (29,950 in last 10 years) Source
- Phenotype characterisedPresent
30 HPO annotations (e.g. Cleft palate; Cor pulmonale; Dysphagia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
1 matched on ClinicalTrials.gov
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 (SOX9).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
30
Associated phenotypes · MONDO:0009869
- Cleft palate
- Cor pulmonale
- Dysphagia
- Tracheal stenosis
- Elevated pulmonary artery pressure
Showing 5 of 30 — 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?
41,083
41,083 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
41,083 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).
29,950 in the last 10 years · medium confidence · 99.1th percentile (publications denominator)
Phrase hits: 2,300 · MeSH hits: 0
Who's working on it?
1,026
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.
- 01Choo H7 papers · 2026
Department of Surgery, Division of Plastic and Reconstructive Surgery, Section of Craniofacial Airway Orthodontics, Stanford University School of Medicine, Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.
Papers in Europe PMC - 02
- 03Chen Y4 papers · 2025
Associate Chief Physician, Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 04Cui Y4 papers · 2026
Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 05Liu L4 papers · 2026
Department of Anesthesiology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Papers in Europe PMC - 06
- 07Davies A3 papers · 2026
The Cleft Collective, Bristol Dental School, University of Bristol, Bristol, UK.
Papers in Europe PMC - 08Forrest CR3 papers · 2026
Department of Surgery, Division of Plastic, Reconstructive and Aesthetic Surgery, University of Toronto Temerty Faculty of Medicine, Toronto, Canada.
Papers in Europe PMC - 09Huang J3 papers · 2026
Molecular Medicine Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
medium confidence · 80.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
7 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.
None of the matched observational studies is currently listed as recruiting.
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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)
- isrctn·ISRCTN17260595·No longer recruiting·Can treating ankyloglossia (tongue-tie) cure sleep apnea (breathing difficulty during sleep)?
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13570106·No longer recruiting·Estimating neonatal oral endotracheal tube depth of insertion using weight or suprasternal palpation of the tip
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN39654846·No longer recruiting·Estimating the depth of insertion of oral endotracheal tubes in newborns using weight or vocal cord guide
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN74486341·No longer recruiting·Placing preterm infants on their back or in recovery position on their left side at birth
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN40879573·No longer recruiting·Comparing the use of gestational age or weight to estimate Neonatal Endotracheal tube Depth of Insertion (NEDI)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15233270·No longer recruiting·Nasal Intermittent Positive Pressure Ventilation
skipped — LLM skipped (--skip-llm)
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 Isolated Pierre Robin sequence — check Associations / patient organisations on that page.
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.
("Isolated Pierre Robin sequence" OR "Pierre Robin Sequence") OR ("SOX9" OR "SOX9 syndrome" OR "SOX9-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated Pierre Robin sequence" OR "Pierre Robin Sequence"
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: 1 interventional · 7 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: PRS
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
Ingested 2026-07-26T15:01:43.145Z