ORPHA:352577
Bainbridge-Ropers syndrome
Also known as: Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
177
74.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,443
Distinct authors in sample
Gene link
ASXL3
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, , severe global development delay that frequently results in absent/poor speech, moderate to severe and . Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.
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:0014205
- OMIM:615485
- UMLS:C4750837
Additional Mondo synonyms (3)
ASXL3-Related Disorder · Bainbridge-Roppers syndrome · severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ASXL3
- LiteraturePresent
177 matched papers (159 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 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 (ASXL3).
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?
177
177 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.
177 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).
159 in the last 10 years · high confidence · 74.9th percentile (publications denominator)
Phrase hits: 177 · MeSH hits: 0
Who's working on it?
1,443
Distinct author names in 177 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.
- 01Balasubramanian M11 papers · 2026
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Papers in Europe PMC - 02Wang L7 papers · 2025
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 03Woods E6 papers · 2026
Division of Clinical Medicine, University of Sheffield, Sheffield, UK.
Papers in Europe PMC - 04Liu Y5 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 05Wang Y5 papers · 2025
Genetics Branch, Center for Cancer Research, NCI, Rockville, Maryland.
Papers in Europe PMC - 06Jiang Y4 papers · 2026
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 07Ockeloen CW4 papers · 2026
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 08Russell BE4 papers · 2026
Division of Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.
Papers in Europe PMC - 09Schoch K4 papers · 2021
Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Papers in Europe PMC - 10Shashi V4 papers · 2021
Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Papers in Europe PMC
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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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
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
- NCT03303716·RECRUITING·ASXL-Related Disorders Natural History Study
Conditions: Bohring-Opitz Syndrome · ASXL1 Gene Mutation · Shashi-Pena Syndrome · ASXL2 Gene Mutation·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.
"Bainbridge-Ropers syndrome" OR "Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" OR "ASXL3-Related Disorder" OR "Bainbridge-Roppers syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bainbridge-Ropers syndrome" OR "Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" OR "ASXL3-Related Disorder" OR "Bainbridge-Roppers syndrome" OR "ASXL3"
Recall-expansion terms: ASXL3
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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T14:13:46.160Z