Overview
High bone mass osteogenesis imperfecta (OI) is a rare genetic bone disorder that belongs to the broader group of conditions known as osteogenesis imperfecta, sometimes called "brittle bone disease." Unlike the more common forms of OI where bones are fragile and break easily, high bone mass OI is unusual because the bones are actually denser than normal yet still prone to fractures. This happens because the bone tissue, while abundant, is not properly organized or of normal quality. People with high bone mass OI may experience bone fractures from mild trauma, particularly during childhood. They may also have short stature, bone deformities, and thickened or dense-appearing bones on X-rays. The whites of the eyes (sclera) may appear normal or slightly blue. Some individuals develop hearing loss over time. The condition is caused by specific mutations in genes that produce type I collagen, the main structural protein in bone. Treatment focuses on preventing fractures, managing pain, and supporting mobility. Bisphosphonate medications may be used to improve bone strength, and physical therapy plays an important role. Orthopedic surgery, including the placement of metal rods in long bones, may be needed for severe or recurrent fractures. While there is no cure, many people with this condition can lead active lives with appropriate medical support and monitoring.
Also known as:
Key symptoms:
Bones that break easily, sometimes from minor injuriesUnusually dense or thick bones seen on X-raysShort stature or growth problemsBone deformities, especially in the arms and legsHearing loss that may develop over timeJoint looseness or hypermobilityMuscle weaknessBone painCurved or bowed long bonesScoliosis or other spine curvatureDental problems such as brittle or discolored teethWaddling gait or difficulty walking
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for High bone mass osteogenesis imperfecta.
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Specialists
View all specialists →No specialists are currently listed for High bone mass osteogenesis imperfecta.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to High bone mass osteogenesis imperfecta.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic mutation does my child have, and how does it affect bone quality?,Are bisphosphonates appropriate for this type of OI, given that bone density is already high?,What activities are safe, and which should be avoided to reduce fracture risk?,How often should we have bone density scans, hearing tests, and orthopedic check-ups?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for this form of OI?,What should we do if we suspect a new fracture has occurred?
Common questions about High bone mass osteogenesis imperfecta
What is High bone mass osteogenesis imperfecta?
High bone mass osteogenesis imperfecta (OI) is a rare genetic bone disorder that belongs to the broader group of conditions known as osteogenesis imperfecta, sometimes called "brittle bone disease." Unlike the more common forms of OI where bones are fragile and break easily, high bone mass OI is unusual because the bones are actually denser than normal yet still prone to fractures. This happens because the bone tissue, while abundant, is not properly organized or of normal quality. People with high bone mass OI may experience bone fractures from mild trauma, particularly during childhood. The
How is High bone mass osteogenesis imperfecta inherited?
High bone mass osteogenesis imperfecta follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.