Living with Autosomal recessive osteopetrosis 5
A severe inherited bone condition caused by changes in the OSTM1 gene that can also affect the brain.
Understanding Autosomal recessive osteopetrosis 5
Bones become harder and denser, and growth is slowed. Features can also include a small head, brain shrinkage, bulging eyes, an enlarged liver and spleen, anemia, and muscle stiffness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dense, fracture-prone bones
- Slowed growth
- Enlarged liver and spleen
- Small head size (microcephaly)
- Brain shrinkage (cerebral atrophy)
- Increased muscle tone
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 OSTM1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive osteopetrosis type 5; infantile malignant osteopetrosis 3; optb5; osteopetrosis (disease) caused by mutation in ostm1; osteopetrosis, autosomal recessive type 5; ostm1 osteopetrosis (disease)
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 5.
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