Osteogenesis Imperfecta: Understanding Brittle Bone Disease

Ian C. Langtree - Writer/Editor for Disabled World (DW)
Published: 2009/04/04 - Updated: 2025/03/24
Publication Type: Informative
Topic: Bones and Joints - Publications List

Page Content: Synopsis - Introduction - Main - Insights, Updates

Synopsis: This information provides a comprehensive overview of osteogenesis imperfecta (OI), commonly known as brittle bone disease. It details the eight recognized types of OI, ranging from mild to severe, and discusses associated symptoms such as frequent bone fractures, blue sclerae, short stature, hearing loss, and dental issues. The content also covers early detection methods, including the use of ultrasound during pregnancy, and addresses potential therapies like bisphosphonates to manage symptoms. Additionally, it presents relevant statistics, highlighting the incidence and prevalence of OI in the United States. This resource serves as a valuable guide for individuals with OI, their families, healthcare professionals, and anyone seeking to understand this genetic disorder.. - Disabled World (DW).

Introduction

Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. Alternate Names: Osteogenesis Imperfecta Congenita (OIC), Vrolik Disease (OI Type 2A) or Lobstein syndrome

The U.S. Social Security Administration (SSA) has included Osteogenesis Imperfecta (OI) - Type II as a Compassionate Allowance to expedite a disability claim.

Main Item

People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common and can occur even before birth in severe cases. Milder cases may involve only a few fractures over a person's lifetime.

There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic factors define the different forms of osteogenesis imperfecta.

• Type I is the mildest form of osteogenesis imperfecta.
• Type II is the most severe.

Other types of this condition have signs and symptoms that fall between these extremes.

The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera) and may develop hearing loss in adulthood.

Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that may begin before birth and result from little or no trauma. Additional features of these conditions include blue sclerae, short stature, hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta.

The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities have life-threatening problems with breathing and often die shortly after birth.

Early Detection

Ultrasound can often detect severe cases of OI during pregnancy.

The severe form of OI Type II can be seen on ultrasound when the fetus is as young as 16 weeks. Genetic testing may be able to identify the mutation. Most infants with more severe forms of osteogenesis imperfecta (such as type II) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene.

There is no cure for this disease. However, specific therapies can reduce the pain and complications associated with OI. Bisphosphonates are drugs that have been used to treat osteoporosis.

OI Type II infants have life-threatening problems with breathing and often die shortly after birth.

Osteogenesis Imperfecta Facts and Statistics

Osteogenesis imperfecta is a disease that causes weak bones that break easily. It is known as brittle bone disease. Sometimes the bones break for no known reason. OI can cause many other problems, such as weak muscles, brittle teeth, and hearing loss.

• There are eight main types of osteogenesis imperfecta.
• People with type 1 tend to have mild symptoms.
• People with types 2, 3, 7, and 8 tend to have severe symptoms.
• People with types 4, 5, and 6 tend to have more moderate symptoms.
• In the United States, the incidence of osteogenesis imperfecta is estimated to be one per 20,000 live births.
• An estimated 20,000 to 50,000 people are affected by OI in the United States.
• The prognosis for a person with OI varies greatly depending on the number and severity of symptoms.

Update: 9th August, 2013: New Treatment for Brittle Bone Disease

A new treatment for children with brittle bone disease has been developed by the University of Sheffield and Sheffield Children's Hospital.

This is the first study to demonstrate that risedronate can reduce the risk of fracture in children with brittle bones and have rapid action - the curves for fracture risk begin to diverge after only six weeks of treatment.

"The fact that this medicine can be given by mouth at home (a drip gives other similar medicines in hospital) makes it family-friendly."

The study, funded by the Alliance for Better Bone Health, trialed children with Osteogenesis Imperfecta aged 4 - 15 years and showed that oral risedronate reduced the risk of first and recurrent clinical fractures and that the drug was generally well tolerated.

Insights, Analysis, and Developments

Author Credentials: Ian was born and grew up in Australia. Since then, he has traveled and lived in numerous locations and currently resides in Montreal, Canada. Ian is the founder, a writer, and editor in chief for Disabled World. Ian believes in the Social Model of Disability, a belief developed by disabled people in the 1970s. The social model changes the focus away from people's impairments and towards removing barriers that disabled people face daily. To learn more about Ian's background, expertise, and achievements, check out his bio.