Osteogenesis imperfecta
- Synonyms
- COL1A1/2-Related Osteogenesis Imperfecta
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Robert D Steiner
- Donald Basel
- view full author information
Available tests
70 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (70 available)
- Orphanet, 2008Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)
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