Living with Osteopetrosis
A group of bone diseases in which bones become unusually dense but break easily, from mild to severe.
Understanding Osteopetrosis
Types are usually separated by inheritance and severity. The autosomal dominant type (Albers-Schönberg disease) is typically the mildest, and some people have no symptoms. The autosomal recessive type is more severe and shows in early infancy, with high fracture risk, dense skull bones pinching nerves, and bone marrow problems causing bleeding, anemia, and infections. GARD lists onset as any time in life.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Bones that break after minor injury
- Curved spine (scoliosis) and other spine differences
- Arthritis in the hips
- Bone infection (osteomyelitis)
- Vision loss, hearing loss, or face weakness from pinched nerves
- Anemia, bleeding, and repeated infections in severe forms
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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
GARD says changes in genes cause this condition. The types are separated by inheritance: autosomal dominant, autosomal recessive (a child inherits a changed copy from each parent), or X-linked.
Also known as: albers-schoenberg disease; albers-schonberg disease; albers-schönberg disease; harder, denser, fracture-prone bones; marble bone; marble bone disease
Patient organizations
- Little People of AmericaOsteopetrosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteopetrosis.
Explore research for Osteopetrosis
Explore actively recruiting Osteopetrosis studies with HealthSpark.
Find actively recruiting studies for 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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