Living with Bone fragility with contractures, arterial rupture, and deafness
A rare genetic connective tissue condition affecting bones, joints, eyes, skin, hearing, and blood vessels.
Understanding Bone fragility with contractures, arterial rupture, and deafness
It affects many tissues and organs. Features include bone problems like club foot, scoliosis, thin bones, and fractures, plus eye differences, and hair, nail, and skin changes. People may have slow growth before birth, joint contractures, growth and developmental delay, and deafness in both ears. Blood vessel tears can occur later.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Easy bruising
- Tears in arteries (arterial rupture)
- Club feet
- Nearsightedness and cataracts
- Coarse hair and nail differences
- Delays in development
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in PLOD3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PLOD3 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bcard syndrome; bone abnormalities, cataract, arterial rupture, and deafness; bone fragility-contractures-arterial rupture-deafness syndrome; bone fragility-contractures-arterial rupture-hearing loss syndrome; connective tissue disorder due to lh3 deficiency; connective tissue disorder due to lysyl hydroxylase-3 deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Bone fragility with contractures, arterial rupture, and deafness.
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