Living with Autosomal dominant osteopetrosis 2
An inherited bone condition that makes bones dense and can cause fractures and pain.
Understanding Autosomal dominant osteopetrosis 2
Osteopetrosis is a group of rare inherited bone disorders. Symptoms, severity, and age of onset vary a lot. Some people only have it found by chance on an X-ray. Others can have fractures, short height, low blood counts, or pressure on nerves. Onset for this type is listed as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain
- Overall denser bones (osteosclerosis)
- Low red blood cells (anemia)
- Bone infection (osteomyelitis)
- Joint dislocation and arthritis
- Tiredness (fatigue)
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.
- 3Consider genetic testing
Changes in CLCN7 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); 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
This type is caused by changes in the CLCN7 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: albers schonberg osteopetrosis; albers-schonberg disease, autosomal dominant; albers-schonberg osteopetrosis; albers-schönberg osteopetrosis; autosomal dominant albers-schonberg disease; autosomal dominant osteopetrosis type 2
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 2.
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