ORPHA:486811
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Also known as: SMABF
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
114
56.2th percentile
Trials
0
Interventional, condition-specific
Researchers
652
Distinct authors in sample
Gene link
TRIP4
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic motor neuron disease characterized by decreased or absent fetal movements, proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple fractures of the long bones. Further manifestations are respiratory distress, severe muscular , areflexia, dysphagia, heart defects, and facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.
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:0000209
- UMLS:C5567518
Additional Mondo synonyms (1)
spinal muscular atrophy with congenital bone fractures
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
Strong — TRIP4
- LiteraturePresent
114 matched papers (58 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 (TRIP4).
GenCC classification: Strong.
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).
58 in the last 10 years · high confidence · 56.2th percentile (publications denominator)
Phrase hits: 114 · MeSH hits: 0
Who's working on it?
652
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.
- 01Reiberger T9 papers · 2022
Department of Gastroenterology and Hepatology, Medical University of Vienna, Vienna, Austria.
Papers in Europe PMC - 02Schwabl P8 papers · 2022
Div. of Gastroenterology & Hepatology, Dept. of Internal Medicine III, Medical University Vienna, Austria; Vienna Hepatic Hemodynamic Lab, Vienna, Austria.
Papers in Europe PMC - 03Genescà J7 papers · 2023
Hepatic Diseases Laboratory, Liver Unit-Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, Madrid, Spain.
Papers in Europe PMC - 04Martell M7 papers · 2023
Hepatic Diseases Laboratory, Liver Unit-Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Papers in Europe PMC - 05Raurell I7 papers · 2023
Hepatic Diseases Laboratory, Liver Unit-Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Papers in Europe PMC - 06Trauner M7 papers · 2022
Div. of Gastroenterology & Hepatology, Dept. of Internal Medicine III, Medical University Vienna, Austria.
Papers in Europe PMC - 07Königshofer P6 papers · 2022
Div. of Gastroenterology and Hepatology, Dept. of Internal Medicine III, Medical University of Vienna, A-1090 Vienna, Austria.
Papers in Europe PMC - 08Bosch J5 papers · 2025
Liver Vascular Biology Research Group, IDIBAPS, 08036 Barcelona, Spain. jaume.bosch@clinic.cat.
Papers in Europe PMC - 09Brusilovskaya K5 papers · 2022
Division of Gastroenterology and Hepatology, Dept. of Internal Medicine III, Medical University of Vienna, Vienna, Austria.
Papers in Europe PMC - 10Peck-Radosavljevic M5 papers · 2021
Div. of Gastroenterology & Hepatology, Dept. of Internal Medicine III, Medical University Vienna, Austria; Vienna Hepatic Hemodynamic Lab, Vienna, Austria. Electronic address: markus.peck@meduniwien.ac.at.
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.
"Prenatal-onset spinal muscular atrophy with congenital bone fractures" OR "SMABF" OR "spinal muscular atrophy with congenital bone fractures"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Prenatal-onset spinal muscular atrophy with congenital bone fractures" OR "SMABF" OR "spinal muscular atrophy with congenital bone fractures" OR "TRIP4"
Recall-expansion terms: TRIP4
Study-type breakdown: 0 interventional · 0 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 2026-07-27T17:21:14.113Z