Osteogenesis imperfecta type V

Alternate names

OI type 5; Type V OI; OI type V; OI with calcification in interosseous membranes

Definition

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

To date 47 cases have been reported.

Cause

The causal gene for OI type V is not known.

Inheritance

File:Autosomal dominant - en.svg

Autosomal dominant pattern, a 50/50 chance.

Transmission is thought to be autosomal dominant.

Signs and symptoms

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

• NIH info on Osteogenesis imperfecta type V

Osteogenesis imperfecta type V is a rare disease.