ORPHA:364577
Intellectual disability-brachydactyly-Pierre Robin syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
20
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
119
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012095
- MeSH:C563880
- OMIM:608670
- UMLS:C1837564
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
20 matched papers (7 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
20
20 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
20 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).
7 in the last 10 years · high confidence · 23.5th percentile (publications denominator)
Phrase hits: 20 · MeSH hits: 0
Who's working on it?
119
Distinct author names in 20 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.
- 01Alexandrov AV5 papers · 2013
Comprehensive Stroke Center, University of Alabama Hospital, 1813 Sixth Avenue South, RWUH M226, Birmingham, AL 35249, USA
Papers in Europe PMC - 02Tsivgoulis G4 papers · 2022
Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, 'Attikon' University General Hospital, Athens, Greece.
Papers in Europe PMC - 03Alexandrov AW3 papers · 2013
Comprehensive Stroke Center, University of Alabama Hospital, 1813 Sixth Avenue South, RWUH M226, Birmingham, AL 35249, USA
Papers in Europe PMC - 04Barlinn K3 papers · 2013
Department of Neurology, University of Technology Dresden, Fetscherstrasse 74, Dresden 01307, Germany
Papers in Europe PMC - 05Sharma VK3 papers · 2020
Division of Neurology, YLL School of Medicine, National University Hospital, National University of Singapore, Singapore.
Papers in Europe PMC - 06Chou N2 papers · 2020
Division of Neurosurgery, University Surgical Cluster, National University Hospital, Singapore.
Papers in Europe PMC - 07Dewolfe J2 papers · 2010Papers in Europe PMC
- 08Zhao L2 papers · 2010Papers in Europe PMC
- 09Albright KC1 paper · 2013
Comprehensive Stroke Center, University of Alabama Hospital, 1813 Sixth Avenue South, RWUH M226, Birmingham, AL 35249, USA
Papers in Europe PMC - 10Altay A1 paper · 1997
Vas Megyei Markusovszky Kórház (igazgató: dr. Kovács L. Gábor), Arc-, Allcsont- és Szájsebészeti Osztály.
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 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.
high 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.
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.
"Intellectual disability-brachydactyly-Pierre Robin syndrome"
MeSH descriptor terms unioned into the query: Robin Sequence with Distinctive Facial Appearance and Brachydactyly
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Intellectual disability-brachydactyly-Pierre Robin syndrome" OR "Robin Sequence with Distinctive Facial Appearance and Brachydactyly"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T14:48:02.563Z