Overview
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. It is sometimes referred to as Osteoporosis-pseudoglioma-intellectual disability syndrome or has been described under similar names in medical literature. The condition combines features of osteogenesis imperfecta (brittle bone disease) with eye problems (retinopathy that can resemble a condition called pseudoglioma), seizures, and intellectual disability. People with this syndrome typically have bones that break easily, even with little or no trauma, due to reduced bone density. The eye involvement can lead to significant vision loss or blindness, often starting in infancy or early childhood. Seizures may vary in type and severity, and intellectual disability can range from mild to severe, affecting learning, communication, and daily functioning. Because this syndrome is so rare, there is no single established treatment protocol. Management is supportive and involves a team of specialists who address each symptom individually. Bone-strengthening medications (such as bisphosphonates), anti-seizure drugs, vision support, and educational therapies are commonly used. Early diagnosis and coordinated care can help improve quality of life, though the condition remains lifelong and there is currently no cure.
Also known as:
Key symptoms:
Bones that break easily (brittle bones)Low bone density (osteoporosis)Seizures or convulsionsIntellectual disability or learning difficultiesVision loss or blindnessAbnormal eye appearance (pseudoglioma or retinopathy)Short stature or poor growthDelayed developmental milestonesMuscle weaknessJoint looseness or hypermobilityBlue or gray tint to the whites of the eyesSpeech delaysDifficulty with coordination or balance
Clinical phenotype terms (8)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome.
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 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome.
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 genetic testing should be done to confirm the diagnosis?,What medications can help strengthen my child's bones and reduce fractures?,What is the best treatment plan for controlling seizures in this condition?,Are there any eye treatments or surgeries that could help preserve or restore vision?,What developmental therapies and educational supports do you recommend?,How often should we schedule follow-up visits with each specialist?,Are there any clinical trials or research studies we should know about?
Common questions about Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
What is Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome?
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. It is sometimes referred to as Osteoporosis-pseudoglioma-intellectual disability syndrome or has been described under similar names in medical literature. The condition combines features of osteogenesis imperfecta (brittle bone disease) with eye problems (retinopathy that can resemble a condition called pseudoglioma), seizures, and intellectual disability. People with this syndrome typically have bones that break easily, even
How is Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome inherited?
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome typically begin?
Typical onset of Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.