Osteogenesis imperfecta

Osteogenesis imperfecta is a rare genetic bone disorder causing very weak bones. It is also called “brittle bone disease”. In addition to weak bones, symptoms may include blueness of the whites of the eyes, and hearing loss or deafness (due to otosclerosis from weak ear bones). Complications include fractures, sometimes ...

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Introduction: Osteogenesis imperfecta

Osteogenesis imperfecta. Osteogenesis imperfecta (OI) is characterized by fragile bones, low muscle mass, and loose joints and ligaments. There are several identified types of osteogenesis imperfecta, ranging in severity from mild to lethal. The appearance of people with osteogenesis imperfecta ...1

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Symptoms of Osteogenesis imperfecta

What are the symptoms of osteogenesis imperfecta (OI)? All types of OI have some degree of bone fragility and fracturing, and many have some degree of bone deformity. The symptoms of OI vary by type:

  • Type I
  • Most common and ...
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Complications of Osteogenesis imperfecta

The bone deformities and collagen defects common to OI can affect various internal organs, leading to secondary problems. These include: Lung Problems People with OI are more vulnerable to lung problems, including asthma and pneumonia. Viral and bacterial infections can ...2

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Causes of Osteogenesis imperfecta

What causes osteogenesis imperfecta (OI)? OI is caused by defects in or related to a protein called type 1 collagen (pronounced KOL-uh-juhn). Collagen is an essential building block of the body. The body uses type 1 collagen to ...3

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Causes List for Osteogenesis imperfecta

Some possible causes of Osteogenesis imperfecta or similar disorders may include:4

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Types of Osteogenesis imperfecta

There are currently 11 types of OI. Types I through IV are the most common. They are autosomal dominant forms of the disease. Autosomal dominance is a pattern of inheritance common to some genetic diseases. “Autosomal” means that the abnormal ...5

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Diagnosis of Osteogenesis imperfecta

How do health care providers diagnose osteogenesis imperfecta (OI)? If OI is moderate or severe, health care providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy. If a parent or sibling has OI, a health ...6

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Genetics of Osteogenesis imperfecta

Most forms of OI are caused by abnormal genes that are passed down from one or both parents to their children. Types I through IV are the most common. They are autosomal dominant forms of the disease. Types VI through ...7

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Treatments: Osteogenesis imperfecta

What are the treatments for osteogenesis imperfecta (OI)? OI treatments are designed to prevent or control symptoms and vary from person to person. Early intervention is important to ensure optimal quality of life and outcomes. Treatment for OI and its ...8

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Research for Osteogenesis imperfecta

Osteogenesis Imperfecta (OI): NICHD Research Information: NICHD conducts and supports research on many aspects of osteogenesis imperfecta, including genetics and treatment. NICHD research has been instrumental in the discovery of the genes that cause recessive OI, as well as the ...9

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)10 ...

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References

  1. Source: NIAMS (NIH): niams.nih.gov/ Health_Info/ Connective_Tissue/ default.asp
  2. Source: NICHD (NIH): nichd.nih.gov/ health/ topics/ osteogenesisimp/ conditioninfo/ Pages/ symptoms.aspx
  3. Source: NICHD (NIH): nichd.nih.gov/ health/ topics/ osteogenesisimp/ conditioninfo/ Pages/ causes.aspx
  4. Source: Algorithmically Generated List
  5. Source: NICHD (NIH): nichd.nih.gov/ health/ topics/ osteogenesisimp/ conditioninfo/ Pages/ default.aspx
  6. Source: NICHD (NIH): nichd.nih.gov/ health/ topics/ osteogenesisimp/ conditioninfo/ Pages/ diagnose.aspx
  7. Source: NICHD (NIH): nichd.nih.gov/ health/ topics/ osteogenesisimp/ conditioninfo/ Pages/ default.aspx
  8. Source: NICHD (NIH): nichd.nih.gov/ health/ topics/ osteogenesisimp/ conditioninfo/ Pages/ treatments.aspx
  9. Source: NICHD (NIH): nichd.nih.gov/ health/ topics/ osteogenesisimp/ researchinfo/ Pages/ default.aspx
  10. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ osteogenesis-imperfecta

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