bone fragility with contractures, arterial rupture, and deafness
Findings
No curated finding names bone fragility with contractures, arterial rupture, and deafness yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012892), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Arterial ruptureHPOHP:0025019
- 1 of 1 reported patient
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 1 reported patient
- Bruising susceptibilityHPOHP:0000978
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Coarse hairHPOHP:0002208
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLOD3HGNC:9083
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: bone fragility with contractures, arterial rupture, and deafness
- Also called
- bone fragility-contractures-arterial rupture-deafness syndromeconnective tissue disorder due to LH3 deficiencyconnective tissue disorder due to lysyl hydroxylase-3 deficiency