Living with Autosomal recessive osteopetrosis 2
A severe inherited bone condition caused by changes in the TNFSF11 gene.
Understanding Autosomal recessive osteopetrosis 2
It is linked to a low count of osteoclasts, the cells that break down old bone. People can have repeated fractures, anemia, an enlarged liver and spleen, shaky eye movements, and extra fluid in the brain (hydrocephalus).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Recurrent fractures
- Low red blood cells (anemia)
- Enlarged liver and spleen
- Shaky eye movements (nystagmus)
- Extra fluid in the brain (hydrocephalus)
- Low count of osteoclast cells
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
It is caused by changes in the TNFSF11 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive malignant osteopetrosis caused by mutation in tnfsf11; autosomal recessive osteopetrosis caused by mutation in tnfsf11; autosomal recessive osteopetrosis type 2; mild autosomal recessive form osteopetrosis; optb2; osteoclast-poor osteopetrosis
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 2.
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