Osteogenesis Imperfecta

What is osteogeneis imperfecta?

Osteogenesis imperfecta refers to a genetic disorder which causes the bones to be fragile and break easily. This disorder can range from mild to severe and currently there are eight recognised forms of osteogenesis imperfect (OI) ranging from type I to type VIII. The terms ‘osteogenesis imperfecta’ mean imperfect bone formation.

What are its main signs and symptoms?

The symptoms of OI may vary according to the type of OI. Type I is the mildest and most common form of OI. Its symptoms are as follows:

• Increased bone fractures during puberty
• Little to no bone deformity
• Brittle teeth
• Hearing loss
• Easy bruising
• Slight delay in motor skills

The symptoms for type I OI tend to be so mild that they may not get diagnosed until the individual is an adult.

For more severe types of OI, the symptoms can be as follows:

• Severe bone deformity
• Extremely brittle bones and teeth

For type III the symptoms are as follows:

• Multiple fractures occurring very early in life
• Curving of the spine
• Hearing loss
• Brittle teeth
• Short height
• Bone deformities

Along with bone deformities, other symptoms may also persist. These include:

• Breathing problems
• Heart problems
• Neurological problems

What are the main causes?

OI is a genetic disorder; the mutations in certain genes namely, the COL1A1, COL1A2, CRTAP, and P3H1 genes, cause osteogenesis imperfecta.

How is it diagnosed and treated?

Osteogenesis imperfecta may be diagnosed even before the birth of the child by amniocentesis or DNA testing.

However, if not detected prenatally, other tests may be done to diagnose OI:

• Physical examination
• Evaluating the family history
• X rays
• Bone density test
• Bone biopsy

The treatment options of OI include:

• Fracture care – this makes use of casting and splitting to help the fractured bones heal faster and prevent the fracture from happening again.
• Physical therapy – this focuses on enabling the child to achieve certain motor skills to be able to perform and carry out daily life activities.
• Surgery – surgery may be performed in order to correct any bone deformities.
• Medications – medications may be used for inhibiting the breakdown of a bone or reduce pain relayed to this disorder.

1. National Institutes of Health; [Internet]. U.S. National Library of Medicine. Osteogenesis imperfecta
2. Eunice Kennedy Shriver National Institute of Child Health and Human; National Health Service [Internet]. UK; What are the symptoms of osteogenesis imperfecta (OI)?
3. MedlinePlus Medical Encyclopedia: US National Library of Medicine; Osteogenesis Imperfecta
4. National Institute of Arthritis and Musculoskeletal and Skin Diseases [Internet]. NIH Osteoporosis and related Bone diseases; National research center: National Institute of Health; Osteogenesis Imperfecta.
5. National Institute of Arthritis and Musculoskeletal and Skin Diseases [Internet]. National Institute of Health; Osteogenesis Imperfecta.
6. National Organization for Rare Disorders [Internet], Osteogenesis Imperfecta