Living with Autosomal recessive osteopetrosis 7
An inherited bone condition with dense bones that starts in infancy and can affect vision.
Understanding Autosomal recessive osteopetrosis 7
Osteopetrosis is a group of rare inherited bone disorders. Symptoms and severity vary a lot, and onset for this type is listed as the newborn period and infancy. People can have an enlarged liver and spleen, slowed growth, shaky eye movements, and vision that gets worse over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dense, fracture-prone bones
- Enlarged liver (hepatomegaly)
- Enlarged spleen (splenomegaly)
- Slowed growth
- Shaky eye movements (nystagmus)
- Vision loss that gets worse over time
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 allergy and immune system specialists, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in TNFRSF11A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency Foundation
- 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 TNFRSF11A gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; autosomal recessive osteopetrosis type 7; optb7; osteoclast-poor osteopetrosis with hypogammaglobulinemia; osteopetrosis (disease) caused by mutation in tnfrsf11a; osteopetrosis-hypogammaglobulinemia syndrome
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- 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 7.
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