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bone fragility with contractures, arterial rupture, and deafness - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

bone fragility with contractures, arterial rupture, and deafness

MONDO:0012892

Also known as:bone fragility-contractures-arterial rupture-deafness syndromeconnective tissue disorder due to LH3 deficiencyconnective tissue disorder due to lysyl hydroxylase-3 deficiency

Overview

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, progressive 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 developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

GeneticsAutosomal recessive · PLOD3 (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Anteverted nares, Nail dysplasia, Short nose, and J-shaped sella turcica and others; and common findings: Enlarged brain ventricles (ventriculomegaly), Porencephalic cyst, Overlapping fingers, and Pointed chin. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Hypoplasia of the capital femoral epiphysis, Contracture of the proximal interphalangeal joint of the 2nd finger, Mild bone density loss (osteopenia)

Genetic Landscape

PLOD3 function has not been fully characterized.

Bone fragility with contractures, arterial rupture, and deafness is associated with mutations in the PLOD3 gene on chromosome 7.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for PLOD3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for bone fragility with contractures, arterial rupture, and deafness has been reported in the published literature.

Prognosis

Phenotype severity distribution: 31 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for bone fragility with contractures, arterial rupture, and deafness.

109 publications have been identified in PubMed for bone fragility with contractures, arterial rupture, and deafness. Research spans Review / Meta-Analysis (54%), Basic Science / Preclinical (15%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Research summaries	59	54%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612394

Orphanet

European rare disease database

Orphanet:300284

GARD

Genetic and Rare Diseases Info Center

GARD:17362

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

bone fragility with contractures, arterial rupture, and deafness

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

bone fragility with contractures, arterial rupture, and deafness

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications