ORPHA:2117
Hartsfield syndrome
Also known as: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
Publications
114
64.5th percentile
Trials
0
Interventional, condition-specific
Researchers
3,554
Distinct authors in sample
Gene link
FGFR1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, multiple anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. of variable severity and endocrine abnormalities are often associated.
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:0014196
- MeSH:C564484
- OMIM:615465
- UMLS:C1845146
Additional Mondo synonyms (3)
Hartsfield-Bixler-Demyer syndrome · holoprosencephaly-ectrodactyly-cleft lip palate syndrome · holoprosencephaly-ectrodactyly-cleft lip/palate 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.”
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
- LiteraturePresent
114 matched papers (89 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).
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?
114
114 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.
114 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).
89 in the last 10 years · medium confidence · 64.5th percentile (publications denominator)
Phrase hits: 114 · MeSH hits: 0
Who's working on it?
3,554
Distinct author names in 114 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.
- 01Wang Y11 papers · 2026
Saint Louis University, Department of Biology, Saint Louis, MO, USA.
Papers in Europe PMC - 02Liu Y9 papers · 2023
Tsinghua Unversity, School of Life Sciences, Beijing, China.
Papers in Europe PMC - 03Muenke M7 papers · 2019
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 04Wang X7 papers · 2024
University of South Dakota, Division of Basic Biomedical Sciences, Vermillion, SD, USA.
Papers in Europe PMC - 05Zhang H7 papers · 2021
Thomas Jefferson University/Vickie & Jack Farber Institute for Neuroscience, Hospital for Neuroscience, Philadelphia, PA, USA.
Papers in Europe PMC - 06Zhang Y6 papers · 2021
The Chinese University of Hong Kong, Department of Anaesthesia and Intensive Care, Hong Kong, China.
Papers in Europe PMC - 07
- 08Hu P5 papers · 2026
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 09Kruszka P5 papers · 2019
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 10Li J5 papers · 2024
Sichuan University, West China Hospital, State key laboratory of biotherapy, Chengdu, Sichuan, China.
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.
medium 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.
"Hartsfield syndrome" OR "Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome" OR "Hartsfield-Bixler-Demyer syndrome" OR "holoprosencephaly-ectrodactyly-cleft lip palate syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hartsfield syndrome" OR "Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome" OR "Hartsfield-Bixler-Demyer syndrome" OR "holoprosencephaly-ectrodactyly-cleft lip palate syndrome"
Study-type breakdown: 0 interventional · 0 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
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T19:10:13.997Z