ORPHA:2899
Brachyolmia-amelogenesis imperfecta syndrome
Also known as: Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
55
50.8th percentile
Trials
0
Interventional, condition-specific
Researchers
495
Distinct authors in sample
Gene link
LTBP3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
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:0011018
- OMIM:601216
- UMLS:C1832594
Additional Mondo synonyms (5)
DASS · dental anomalies and short stature · platyspondyly with amelogenesis imperfecta · platyspondyly-amelogenesis imperfecta syndrome · tooth agenesis, selective, 6
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 — LTBP3
- LiteraturePresent
55 matched papers (43 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 (LTBP3).
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?
55
55 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.
55 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).
43 in the last 10 years · medium confidence · 50.8th percentile (publications denominator)
Phrase hits: 55 · MeSH hits: 0
Who's working on it?
495
Distinct author names in 55 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.
- 01
- 02Bloch-Zupan A3 papers · 2023
Université de Strasbourg, Faculté de Chirurgie Dentaire, Strasbourg, France.
Papers in Europe PMC - 03Ammerpohl O2 papers · 2024
Institute of Human Genetics, Ulm University and Ulm University Medical Center, 89081, Ulm, Germany.
Papers in Europe PMC - 04Arif A2 papers · 2024
Faculty of Science and Technology, University of Central Punjab (UCP), Lahore, Pakistan.
Papers in Europe PMC - 05Brueton L2 papers · 2010Papers in Europe PMC
- 06Demiral E2 papers · 2019
İnönü University Faculty of Medicine, Department of Medical Biology and Genetics, Malatya, Turkey
Papers in Europe PMC - 07Elefteriades JA2 papers · 2023
Aortic Institute, Yale University School of Medicine, New Haven, Connecticut.
Papers in Europe PMC - 08Elhossini RM2 papers · 2024
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.
Papers in Europe PMC - 09Hassib NF2 papers · 2024
Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.
Papers in Europe PMC - 10Khan MA2 papers · 2024
Dental Material, Institute of Basic Medical Sciences, Khyber Medical University Peshawar, Peshawar, Pakistan.
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.
"Brachyolmia-amelogenesis imperfecta syndrome" OR "Platyspondyly-amelogenesis imperfecta syndrome" OR "Verloes-Bourguignon syndrome" OR "dental anomalies and short stature" OR "platyspondyly with amelogenesis imperfecta" OR "tooth agenesis, selective, 6"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Brachyolmia-amelogenesis imperfecta syndrome" OR "Platyspondyly-amelogenesis imperfecta syndrome" OR "Verloes-Bourguignon syndrome" OR "dental anomalies and short stature" OR "platyspondyly with amelogenesis imperfecta" OR "tooth agenesis, selective, 6" OR "LTBP3"
Recall-expansion terms: LTBP3
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
Synonyms dropped by stoplist: DASS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T21:36:23.825Z