Osteogenesis imperfecta type V
Alternate names[edit | edit source]
OI type 5; Type V OI; OI type V; OI with calcification in interosseous membranes
Definition[edit | edit source]
Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta, a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta.
Epidemiology[edit | edit source]
To date 47 cases have been reported.
Cause[edit | edit source]
The causal gene for OI type V is not known.
Inheritance[edit | edit source]
Transmission is thought to be autosomal dominant.
Signs and symptoms[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
5%-29% of people have these symptoms
- Dentinogenesis imperfecta
- Joint hypermobility(Double-Jointed)
1%-4% of people have these symptoms
- Anterior radial head dislocation
- Blue sclerae(Whites of eyes are a bluish-gray color)
- Hyperextensibility at elbow
- Hyperextensibility of the finger joints(Finger joint hyperextensibility)
- Pes planus(Flat feet)
- Triangular face(Face with broad temples and narrow chin)
NIH genetic and rare disease info[edit source]
Osteogenesis imperfecta type V is a rare disease.
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