What is Osteogenesis imperfecta?

It is a rare disease caused by the lack of collagen type I and type II in the bones. This makes bones weak so they can be broken easily. 
This disease also is also known as brittle bones disease is inherited; besides it may be diagnosed during pregnancy.

Symptoms

The classic symptoms include:

• Blue tint to the whites of their eyes (blue sclera)

• Multiple bone fractures
• Early hearing loss (deafness)
• Persons with OI are usually below average height ( short stature)
• Because type I collagen is also found in ligaments, persons with OI often have loose joints (hypermobility) and flat feet.
• Some types of OI also lead to the development of poor teeth.

• Bowed legs and arms
• Kyphosis
• Scoliosis (S-curve spine)

People with OI often are shorter than most of the people.

Blue sclerae

Diagnosis

There is no definitive test for osteogenesis imperfecta.
Some diagnosis methods are: 

• Skin biopsy to see the stucture and quantity of collagen type I.
• Testing DNA  
•  OI type II is often diagnosed by ultrasound during pregnancy 

Treatment

There is no cure. 

Maintaning a healthy lifestyle by excersing and avoiding smoking can help prevent fractures.

Treatment may include

Tramadol
       

• Care of broken bones

• Pain medication

• Physical therapy

 Physiotherapy is used to strengthen muscles and minimizing the risk of fracture.  

                  Hydrotherapy is often used for this       treatment.

•  Sugery 

Surgery- metal rods for keeping the strength of long bones, so it may prevent fractures.

Types

Type I: 

• Slight spinal curvature
• blue sclera
• Poor muscle tone
• loose joints
• dentinogenesis imperfecta

TypeII:       

• Most cases die within the first year of life due to respiratory failure or intracerebral hemorrhage
• Severe respiratory problems due to underdeveloped lungs
• Severe bone deformity and small stature

Type III:   

• Short stature, spinal curvature and sometimes barrel-shaped rib cage
• Triangular face
• Loose joints (double jointed)
• Discolouration of the sclera (the 'whites' of the eyes are blue)

Type IV:

• Bones fracture easily, especially before puberty
• Short stature, spinal curvature, and barrel-shaped rib cage
• Bone deformity is mild to moderate
• Early loss of hearing

Type V:It is distinguished by "mesh-like" bone appearance.

Type VI:With the same clinical features as Type IV, it is distinguished histologically by "fish-scale" bone appearance.

Atticus Shaffer

You may know him from the show “The middle”

He was born in 1998, so he is currently 19 years. He was diagnosed with Osteogenesis type IV, he has inherited Osteogenesis Imperfecta from his mother, who has type I.

He is 1. 42 metres tall and he has broken some of his bones several times. The short height is one of the symptoms of the disease, so he was able to play a five-years younger boy then he is in the show.

He lives with his parents in a house in the countryside and have a 31 years old brother. He studies at home, but he finished elementary school studying in the recording studio from “the Middle” . He is a member from the Boys Scouts.