ORPHA:300284
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Also known as: Bone fragility-contractures-arterial rupture-deafness syndrome · Bone fragility-contractures-arterial rupture-hearing loss syndrome · Connective tissue disorder due to LH3 deficiency
Publications
15
28.7th percentile
Trials
0
Interventional, condition-specific
Researchers
119
Distinct authors in sample
Gene link
PLOD3
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and , bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
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:0012892
- MeSH:C567320
- OMIM:612394
- UMLS:C2676285
Additional Mondo synonyms (4)
bone fragility with contractures, arterial rupture, and deafness · bone fragility-contractures-arterial rupture-deafness syndrome · connective tissue disorder due to LH3 deficiency · connective tissue disorder due to lysyl hydroxylase-3 deficiency
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — PLOD3
- LiteraturePresent
15 matched papers (11 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 trialPartial
None under the specific name; 1 for broader category connective tissue disorder
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 (PLOD3).
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?
15
15 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=5449) is 41.
15 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).
11 in the last 10 years · high confidence · 28.7th percentile (publications denominator)
Phrase hits: 15 · MeSH hits: 2
Who's working on it?
119
Distinct author names in 15 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.
- 01Dietz HC2 papers · 2014
McKusick-Nathans Institute of Genetic Medicine, Departments of Pediatrics, Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 Howard Hughes Medical Institute, Baltimore, Maryland 21205.
Papers in Europe PMC - 02Li F2 papers · 2022
Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Papers in Europe PMC - 03Li L2 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 04
- 05Lindsay ME2 papers · 2014
Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins Medical Institutions, Baltimore, Maryland 21205-1832, USA.
Papers in Europe PMC - 06Abtahi D1 paper · 2024
Anesthesiology Department, University of Shahid Beheshti Medical Sciences, Imam Hossein Medical Center, Shahid Madani Street, Tehran, Iran. drdariushabtahi@yahoo.com.
Papers in Europe PMC - 07Adams JC1 paper · 2023
School of Biochemistry, University of Bristol, Bristol, United Kingdom.
Papers in Europe PMC - 08Ahn YH1 paper · 2021
Department of Chemistry, Wayne State University, Detroit, Michigan 48202, United States.
Papers in Europe PMC - 09Athari M1 paper · 2024
Department of Orthopedic Surgery, University of Shahid Beheshti Medical Sciences, Shahid Madani Street, Tehran, Iran.
Papers in Europe PMC - 10Au L1 paper · 2013Papers 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). 1 trial are registered for connective tissue disorder, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched connective tissue disorder, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: connective tissue disorder
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Connective tissue disorder due to lysyl hydroxylase-3 deficiency" OR "Bone fragility-contractures-arterial rupture-deafness syndrome" OR "Bone fragility-contractures-arterial rupture-hearing loss syndrome" OR "Connective tissue disorder due to LH3 deficiency" OR "bone fragility with contractures, arterial rupture, and deafness"
MeSH descriptor terms unioned into the query: Bone Fragility with Contractures, Arterial Rupture, and Deafness
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Connective tissue disorder due to lysyl hydroxylase-3 deficiency" OR "Bone fragility-contractures-arterial rupture-deafness syndrome" OR "Bone fragility-contractures-arterial rupture-hearing loss syndrome" OR "Connective tissue disorder due to LH3 deficiency" OR "bone fragility with contractures, arterial rupture, and deafness" OR "PLOD3" OR "hereditary disorder of connective tissue"
Recall-expansion terms: PLOD3, hereditary disorder of connective tissue
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"connective tissue disorder"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T12:38:32.866Z