Living with Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
A rare condition with fragile bones, severe developmental delay, seizures, and eye differences.
Understanding Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Features include extra small bones in the skull sutures (wormian bones), blue whites of the eyes, optic nerve damage, and retinal detachment. Facial features include a prominent forehead and a low hairline. GARD notes no further descriptions in the literature since 1994. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe global developmental delay
- Intellectual disability
- Seizures
- Repeated fractures
- Optic nerve damage and other eye differences
- Extra small bones in the skull (wormian bones)
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, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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
GARD says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: al gazali nair syndrome; al gazali-nair syndrome; osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
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 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome.
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