Living with Autosomal recessive osteopetrosis
A severe inherited bone condition from infancy in which bones become very dense.
Understanding Autosomal recessive osteopetrosis
Bone breaks down too slowly, so bones throughout the body become denser than usual. It is present from the newborn period or infancy. The dense bones can be fragile and break easily. People can also have enlarged liver and spleen, slowed growth, hearing problems, and vision problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dense, fracture-prone bones (osteopetrosis)
- Bone pain
- Slowed growth
- Enlarged liver (hepatomegaly)
- Hearing loss
- Delayed teething
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 bone and joint specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); 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 genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.
Also known as: autosomal recessive malignant osteopetrosis; autosomal recessive osteopetrosis (disease); infantile malignant osteopetrosis; optb; osteopetrosis (disease), autosomal recessive
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 Autosomal recessive osteopetrosis.
Explore research for Autosomal recessive osteopetrosis
Explore actively recruiting Autosomal recessive osteopetrosis studies with HealthSpark.
Find actively recruiting studies for Autosomal recessive osteopetrosis 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Autosomal recessive osteopetrosis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Autosomal recessive osteopetrosis
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Autosomal recessive osteopetrosis experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.