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Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.
Features include very common findings: Abnormality of the eye, Abnormality of vision, Damage to the optic nerve (optic atrophy), and Intellectual disability and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Abnormality of the eye, Abnormality of vision, Damage to the optic nerve (optic atrophy) |
Biomarker and diagnostic research for osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome has been reported in the published literature.
Phenotype severity distribution: 8 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome.
106 publications have been identified in PubMed for osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome. Research spans Review / Meta-Analysis (38%), Other (28%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 37 | 38% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Brain and nerves
3 |
Intellectual disability, Seizure, Severe global developmental delay |
Bones and joints | 2 | Wormian bones, Recurrent fractures |
Muscles | 1 | Damage to the optic nerve (optic atrophy) |
Other research |
27 |
28% |
Laboratory research | 13 | 13% |
Disease patterns and progression | 11 | 11% |
Testing and diagnosis research | 3 | 3% |
Patient case studies | 3 | 3% |
Clinical study results | 2 | 2% |
New treatment approaches | 2 | 2% |
Mansour MA (2026). [PMID: 41325933](https://pubmed.ncbi.nlm.nih.gov/41325933/). *World Neurosurg*. [Review / Meta-Analysis]
Chawla H (2026). [PMID: 33620857](https://pubmed.ncbi.nlm.nih.gov/33620857/). *Unknown Journal*. [Other]
Sumaily IA (2026). [PMID: 37449389](https://pubmed.ncbi.nlm.nih.gov/37449389/). *Ear Nose Throat J*. [Review / Meta-Analysis]
Williams GM (2026). [PMID: 30855930](https://pubmed.ncbi.nlm.nih.gov/30855930/). *Unknown Journal*. [Other]
Bajwa MH (2026). [PMID: 42261037](https://pubmed.ncbi.nlm.nih.gov/42261037/). *J Pak Med Assoc*. [Review / Meta-Analysis]
Narendra VK (2026). [PMID: 41183570](https://pubmed.ncbi.nlm.nih.gov/41183570/). *Nature*. [Other]
Bustamante JG (2026). [PMID: 29261990](https://pubmed.ncbi.nlm.nih.gov/29261990/). *Unknown Journal*. [Other]
Davalan W (2026). [PMID: 41173227](https://pubmed.ncbi.nlm.nih.gov/41173227/). *Exp Neurol*. [Review / Meta-Analysis]
Balasundaram P (2026). [PMID: 34033359](https://pubmed.ncbi.nlm.nih.gov/34033359/). *Unknown Journal*. [Epidemiology / Natural History]
Teoli D (2026). [PMID: 29630289](https://pubmed.ncbi.nlm.nih.gov/29630289/). *Unknown Journal*. [Other]
AI-curated news mentioning osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Updated Jul 27, 2026
New research highlights the significance of dosage in haploinsufficiency related to osteogenesis imperfecta. This study provides insights that could influence future therapeutic strategies for this brittle bone disease.
A recent study published in PubMed highlights the occurrence of atypical femoral fractures in adults with classical osteogenesis imperfecta. This research underscores the need for increased awareness and monitoring of fracture risks in this patient population.
A 12-month longitudinal study published in PubMed evaluates the effectiveness of etoricoxib on bone microarchitecture in patients with osteogenesis imperfecta. The study utilized high-resolution peripheral quantitative computed tomography (HR-pQCT) to assess changes in bone structure.
Quinnipiac University students organized a Rare Disease Day event to promote advocacy and education for rare diseases, emphasizing the importance of preparing future healthcare professionals. The event highlighted personal stories, including the impact of the OI Foundation on families affected by osteogenesis imperfecta.
Quinnipiac University will host 'Rare Disease Day 2026' on February 20, 2026, focusing on Osteogenesis Imperfecta and the need for more research and breakthroughs. The event aims to unite patients, scientists, and advocates to drive progress for rare disease families.