Osteogenesis imperfecta is a condition causing extremely fragile
bones. Osteogenesis imperfecta (OI) is a congenital disease,
meaning it is present at birth. It is frequently caused by
defect in the gene that produces type 1 collagen, an important
building block of bone. There are many different defects that
can affect this gene. The severity of OI depends on the specific
gene defect. OI is an autosomal dominant disease. That means if
you have one copy of the gene, you will have the disease. Most
cases of OI are inherited from a parent, although some cases are
the result of new genetic mutations. A person with OI has a 50%
chance of passing on the gene and the disease to their children.
All people with OI have weak bones, which makes them susceptible
to fractures. Persons with OI are usually below average height (
short stature). However, the severity of the disease varies
greatly. The classic symptoms include: Because type I collagen
is also found in ligaments, persons with OI often have loose
joints (hyperm