Living with Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
A rare genetic condition before and at birth with fragile bones, a small head, and cataracts.
Understanding Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Babies have many bone fractures before birth, loose joints, severe microcephaly (small head), and cloudy lenses (cataracts). Other features include a bluish tint to the whites of the eyes, wide-set eyes, brain differences, and heart and genital differences. It is noticed during pregnancy and at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated bone fractures
- Small head (microcephaly)
- Cataracts
- Bluish-gray whites of the eyes (blue sclerae)
- Wide-set eyes (hypertelorism)
- Short limbs
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, eye disease 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); Eye disease specialists (ophthalmologists); 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 is autosomal recessive, 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 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome.
Explore research for Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Explore actively recruiting Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome studies with HealthSpark.
Find actively recruiting studies for Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 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 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 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 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
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 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 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.