Osteogenesis Imperfecta
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Definition/Description[edit | edit source]
Osteogenesis imperfecta (OI) is a rare genetic disorder of the synthesis of collagen that affects bone and connective tissue. OI can occur by both inheritence and spontaneous genetic mutation. Osteogenesis imperfecta has been linked to over 150 genetic mutations that all take affect on the genes COL1A1 and COL1A2, which are the genes that make up type I collagen. The mutation can either cause collagen production that is too low, or cause abnormal polypeptide chains that is unable to properly form type I collagen. There are four primary types of osteogenesis imperfecta that are described by the Sillence Classification of Osteogenesis Imperfecta.[1]
"Sillence Classification of Osteogenesis Imperfecta
Type I (most common form)
- Mildest form of OI
- Mild to moderate fragility without deformity
- Most fractures occur before puberty
- Associated with blue sclerae, triangular face, hearing loss (beginning in twenties or thirties), easy bruising
Type II
- Most severe form of OI (perinatla lethal)
- Stillbirth or death during infancy or early childhood
- Extreme fragility of connective tissue
- Multiple in utero fractures
- Usually intrauterine growth retardation
- Severe bone deformity
- Soft, large cranium
- Micromelia: long bones crumpled and bowed; ribs beaded
Type III
- Moderately Severe
- Progressive deformities
- Scoliosis
- Triangular face, large skull
- Severe osteoporosis
- Severe fragility of bones; usually in utero fractures
- Factures heal with deformity and bowing
- Associated with tinted sclerae (blue, purple, or grey)
- Extremely short stature
- Usually wheelchair bound by teenage years
Type IV
- Variable but usually milder course; normal or near-normal lifespan
- Mild to moderate skeletal fragility and osteoporosis (more severe than type I)
- Associated with bowing of long bones
- Barrel-shaped rib cage
- Bones fracture easily before puberty; some children improve at puberty
- Light or normal sclerae; may or may not have moderately short stature and joint hyperextensibility"[1]
Prevalence[edit | edit source]
Currently it is estimated that there are around 30,000 to 50,000 people in the United States living with osteogenesis imperfecta. 25% of
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