Living with Autosomal dominant osteopetrosis 1
An inherited bone condition that makes bones denser than usual.
Understanding Autosomal dominant osteopetrosis 1
Osteopetrosis is a group of rare inherited bone disorders. Symptoms and severity vary a lot. Some people only have it found by chance on an X-ray. Others can have fractures, short height, or pressure on nerves. Onset for this type is listed as childhood and the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened skull bone (calvarial osteosclerosis)
- Thickened outer layer of long bones
- Bony bump on the roof of the mouth (torus palatinus)
- Headache (less common)
- Lower jaw pain (less common)
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 and genetic specialists.
- 3Consider genetic testing
Changes in LRP5 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
This type is caused by changes in the LRP5 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: autosomal dominant osteopetrosis type 1; lrp5 osteopetrosis (disease); lrp5-related autosomal dominant osteopetrosis; opta1; osteopetrosis (disease) caused by mutation in lrp5; osteopetrosis, autosomal dominant type 1
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 dominant osteopetrosis 1.
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