Living with Infantile osteopetrosis with neuroaxonal dysplasia
A rare condition with unusually dense bones and brain differences, starting in infancy.
Understanding Infantile osteopetrosis with neuroaxonal dysplasia
The brain changes include a missing or underdeveloped connection between the brain halves (agenesis of the corpus callosum), brain shrinkage, and a small hippocampus. It begins in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unusually dense bones (osteopetrosis)
- Increased skull bone thickness
- Missing corpus callosum (a brain connection)
- Brain shrinkage (cerebral atrophy)
- Global developmental delay
- Weakness of nerves in the head and face (cranial nerve paralysis)
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 OSTM1 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
Changes in the OSTM1 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
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 Infantile osteopetrosis with neuroaxonal dysplasia.
Explore research for Infantile osteopetrosis with neuroaxonal dysplasia
Explore actively recruiting Infantile osteopetrosis with neuroaxonal dysplasia studies with HealthSpark.
Find actively recruiting studies for Infantile osteopetrosis with neuroaxonal dysplasia 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Infantile osteopetrosis with neuroaxonal dysplasia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Infantile osteopetrosis with neuroaxonal dysplasia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Infantile osteopetrosis with neuroaxonal dysplasia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.