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Osteogenesis imperfecta

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Definition

noun

A condition characterized by bones being brittle and breaking easily as caused by a set of genetic disorders resulting in an altered type I collagen and thereby a weak connective tissue essential for a normally strong bone


Supplement

Osteogenesis imperfecta is a condition due to a set of genetic disorders affecting the type I collagen structure necessary for normally strong and healthy bones. Because of the altered type I collagen structure, the connective tissues are affected resulting in the bones breaking easily. Thus, this condition is also called brittle bone disease. Apart from brittle bones, other symptoms include loose joints, hearing loss, short height, teeth problems, and a blue tinge on the sclera.

Some of the potential genetic mutations that would result in this condition are those involving COL1A1, COL1A2, CRTAP, and P3H1 genes. Most of the cases of osteogenesis imperfecta though are associated with a mutation in the COL1A1 gene. The result is an altered structure of type I collagen molecules, and subsequently, a weak connective tissue, particularly the bones.1

There are different types (at least nine) of osteogenesis imperfecta. Type I is the least severe (i.e. mild type). The most severe type reported is type II. It is severe and usually lethal in the perinatal period.1


Abbreviation/Acronym:

  • OI

Synonym(s):

  • brittle bone disease

See also:


Reference(s):
1 Osteogenesis imperfecta. (2018). Genetics Home References (web). Retrieved from [1].