Living with Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type IV, the most variable form, ranging from moderately severe to so mild it is hard to diagnose.
Understanding Osteogenesis imperfecta with normal sclerae, dominant form
It is the most variable form, with symptoms from moderately severe to very mild. Symptoms may include easily broken bones, mild short stature, tooth differences, adult-onset hearing loss, and normal-to-gray whites of the eyes. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD describes these in its summary:
- Easily broken bones
- Mild short stature
- Tooth differences (dentinogenesis imperfecta)
- Hearing loss that starts in adulthood
- Normal to gray whites of the eyes
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, genetic specialists and gum, teeth and mouth specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Osteogenesis Imperfecta Foundation and Children's Brittle Bone Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: Osteogenesis Imperfecta Foundation, Children's Brittle Bone Foundation
- 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 Osteogenesis Imperfecta Foundation and other patient organizations
- 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
Changes in the COL1A1 or COL1A2 gene cause this condition. GARD lists autosomal dominant inheritance among the patterns.
Also known as: common variable osteogenesis imperfecta with normal sclerae; oi type 4; oi4; osteogenesis imperfecta type 4; osteogenesis imperfecta type iv; osteogenesis imperfecta with normal sclera
Patient organizations
- Osteogenesis Imperfecta FoundationOsteogenesis imperfecta with normal sclerae, dominant form · United States
- Children's Brittle Bone FoundationOsteogenesis imperfecta with normal sclerae, dominant form · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteogenesis imperfecta with normal sclerae, dominant form.
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