ORPHA:448242
Autosomal recessive brachyolmia
Also known as: Brachyolmia, Hobaek/Toledo type
Publications
9
18.9th percentile
Trials
0
Interventional, condition-specific
Researchers
137
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Brachyolmia, type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
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:0018662
- UMLS:C4760908
Additional Mondo synonyms (2)
brachyolmia, Hobaek/Toledo type · brachyolmia, autosomal recessive
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
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
9 matched papers (4 in last 10 years) Source
- Phenotype characterisedPresent
39 HPO annotations (e.g. Corneal opacity; Short long bone; Squared-off platyspondyly) 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 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)
39
Associated phenotypes · MONDO:0018662
- Corneal opacity
- Short long bone
- Squared-off platyspondyly
- Short neck
- Kyphosis
Showing 5 of 39 — 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?
9
9 papers have ever been indexed 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=3967) is 59.
9 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).
4 in the last 10 years · high confidence · 18.9th percentile (publications denominator)
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
137
Distinct author names in 9 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.
- 01Abbs S1 paper · 2019
East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Papers in Europe PMC - 02Alembik Y1 paper · 2015
Hôpitaux Universitaires de Strasbourg, Service de Génétique Médicale, 1 place de l'Hôpital, 67000 Strasbourg, France.
Papers in Europe PMC - 03
- 04Armstrong R1 paper · 2019
East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Papers in Europe PMC - 05Arslan Ates E1 paper · 2019
Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey.
Papers in Europe PMC - 06Ashley EA1 paper · 2018
Stanford Medicine Clinical Genomics Service, Stanford Health Care, Stanford, California, USA.
Papers in Europe PMC - 07Bailleul-Forestier I1 paper · 2015
Faculty of Dentistry, Paul Sabatier University, LU51, Pôle Odontologie, Hôpitaux de Toulouse, 3 Chemin des Maraîchers, Toulouse, France.
Papers in Europe PMC - 08Baujat G1 paper · 2019
Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
Papers in Europe PMC - 09Behzadi G1 paper · 2019
Department of Radiology, Stavanger University Hospital, Stavanger, Norway.
Papers in Europe PMC - 10Bereket A1 paper · 2019
Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
Broader category brachyolmia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: brachyolmia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30
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 (5)
- ctis·2024-518972-30-00·Authorised, ongoing·A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519535-42-00·Authorised, recruiting·A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (ASTRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-512840-52-00·Cancelled·Evaluation of the efficacy and safety of empagliflozin in the treatment of neutropenia in patients with glycogenosis Ib. EMPAtia.
skipped — LLM skipped (--skip-llm)
- ctis·2023-508218-41-00·Authorised, recruiting·A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 days to less than 18 years of Age with Autosomal Recessive Polycystic Kidney Disease (ARPKD).
skipped — LLM skipped (--skip-llm)
- ctis·2024-511971-13-00·Expired·An open label, non-randomized trial to evaluate the safety and efficacy of a single infusion of OTL-200 in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD)
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 Autosomal recessive brachyolmia — 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.
"Autosomal recessive brachyolmia" OR "Brachyolmia, Hobaek/Toledo type" OR "brachyolmia, autosomal recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive brachyolmia" OR "Brachyolmia, Hobaek/Toledo type" OR "brachyolmia, autosomal recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"brachyolmia"
Query health: ok — strategies attempted: phrase; 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 2026-07-27T16:36:31.037Z