Living with Bruck syndrome 2
A genetic condition caused by changes in the PLOD2 gene that affects bone and joint development.
Understanding Bruck syndrome 2
The gene makes an enzyme called telopeptide lysyl hydroxylase, which is important for forming strong bones and joints. When the gene is changed, bone and joint development is affected, leading to joint stiffness and bone differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, bent joints (contractures)
- Club feet
- Easily broken bones
- Thin bones (osteopenia)
- Short stature
- Bowed thigh bones
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 PLOD2 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: brks2; bruck syndrome caused by mutation in plod2; bruck syndrome type 2; plod2 bruck syndrome
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 Bruck syndrome 2.
Explore research for Bruck syndrome 2
Explore actively recruiting Bruck syndrome 2 studies with HealthSpark.
Find actively recruiting studies for Bruck syndrome 2 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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