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Rady Children's Specialists

Osteogenesis Imperfecta

What Is Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder that affects a person’s bones. People with OI have bones that are fragile and break easily, even with little or no force. Patients who suffer from weak bones due to this disorder have a problem making a protein called collagen, which provides strength and structure to bones.

What Causes Osteogenesis Imperfecta or Brittle Bone Disease?

Osteogenesis imperfect genetics are due to changes in certain genes that affect how bodies make collagen. The changes in the genes can lead to different types of OI, which can vary in how severe they are. Some osteogenesis imperfecta genetic mutations make less collagen, so the fragile bones are not as strong as they should be. Other mutations make collagen that is not put together properly, making the fragile bones weaker and more likely to break. Sometimes, both reduced collagen production and abnormal collagen structure can happen together.

OI can be passed down from parents to their children. It usually follows an autosomal dominant pattern, which means that if a person has OI, there’s a 50% chance they will pass it on to their children. However, in some cases, it can also be inherited in an autosomal recessive pattern, where both parents need to have a changed gene for the child to be affected by OI types.

Sometimes, OI can happen because of a new mutation that occurs spontaneously, without any family history of this fragile bone condition.

What Are the Signs & Symptoms of Osteogenesis Imperfecta?

Osteogenesis Imperfecta is characterized by specific signs and symptoms that affect the bones and other body tissues including:

  • Fragile or weak bones that break easily, often with minimal force or no apparent cause.
  • Multiple fractures that occur throughout life, with varying severity depending on the OI type.
  • Short stature (being shorter than average) or slow growth.
  • Bone deformities, such as curved or misshapen bones.
  • Loose joints that may be more flexible than normal.
  • Hearing loss or other hearing problems.
  • Blue or gray-colored sclerae (the whites of the eyes).
  • Dental problems, including weakened tooth enamel and brittle teeth.
  • Respiratory issues, such as lung problems due to reduced chest wall strength or scoliosis (curvature of the spine).
  • Weak muscles and tendons.
  • Easy bruising and delayed wound healing.

In summary, understanding the intricate array of symptoms associated with Osteogenesis Imperfecta, including broken bones and fractures, is crucial for comprehensive diagnosis, management, and support.

How is Osteogenesis Imperfecta Diagnosed?

  • Medical such as recurring symptoms including frequent fractures, bone deformities, or related issues, and gather information about the individual’s medical background.
  • A thorough physical examination to assess skeletal features, such as bone deformities, short stature, joint flexibility, and the condition of the sclerae (the whites of the eyes).
  • Family history including family members with OI or a history of frequent fractures to understand the family’s medical background.
  •  Genetic testing involving analyzing the individual’s DNA through a blood sample or cheek swab to check for specific genetic mutations associated with OI, such as in the COL1A1 and COL1A2 genes.
  • X-rays may be taken to evaluate bone density, detect fractures (both old and new), and identify bone deformities or other skeletal abnormalities.
  • Additional tests, such as hearing tests, lung function assessments, or dental examinations, may be recommended to evaluate associated symptoms commonly seen in OI.

How is Osteogenesis Imperfecta Treated?

A multidisciplinary approach involving healthcare professionals from various specialties, including orthopedics, genetics, physical therapy, and dentistry, is typically employed to provide comprehensive care for children with OI. Regular monitoring and follow-up appointments for fragile bones are important for pediatric patients to assess the progression of the condition/genetic disorder and adjust treatment strategies as children grow.

Osteogenesis Imperfecta treatment is a dynamic process that needs ongoing collaboration among healthcare experts. By combining orthopedic interventions, genetic insights, physical therapy, and dental care, the multidisciplinary approach ensures that individuals with Osteogenesis Imperfecta receive tailored care for fragile and broken bones throughout their developmental stages.