Disease Atlas / Disease detail

Osteogenesis imperfecta

An atlas of genetically heterogeneous bone fragility, broad clinical spectrum, molecular diagnosis, fracture prevention, and multidisciplinary care.

osteogenesis imperfecta · OI · brittle bone disease

MONDO:0019019Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 1822baabb255

Disease class: OI is a group of genetic bone-fragility disorders.
Core mechanism: COL1A1 and COL1A2 variants are common causes.
Genes or cause: Other genes cause recessive or X-linked OI.
Typical features: Severity ranges from mild fractures to perinatal lethality.
Variability: Short stature, deformity, and scoliosis can occur.
Diagnosis: Hearing, teeth, eyes, and breathing can be affected.
Management: Diagnosis integrates clinical, imaging, family, and molecular findings.
Treatment and research: Bone density alone cannot establish diagnosis.
Reading evidence: Safe exercise and rehabilitation support function and bone health.
Key caution: Fractures are treated with alignment and growth in mind.

A structured guide for understanding the disease and preparing for clinical conversations.

OI is a group of genetic bone-fragility disorders.

Severity ranges from mild fractures to perinatal lethality.

COL1A1 and COL1A2 variants are common causes.

Other genes cause recessive or X-linked OI.

Short stature, deformity, and scoliosis can occur.

Hearing, teeth, eyes, and breathing can be affected.

Diagnosis integrates clinical, imaging, family, and molecular findings.

Bone density alone cannot establish diagnosis.

Orthopedic, dental, hearing, and respiratory health are monitored lifelong.

Fracture history, genotype, function, and pain require review.

This material is for disease education and is not a personal diagnosis or treatment instruction.

A trial registry status does not establish efficacy or regulatory approval.