Osteogenesis imperfecta

Osteogenesis imperfecta is a hereditary connective tissue disease characterized by incomplete bone formation with increased bronchial swelling. Originally, there are mutations in genes coding for collagen type 1.

Clinically distinguishable classification in five types:

Type 1: autosomal dominant inheritance; slightest form with predominantly extraskeletal symptoms, blue sclera; normal life expectancy, represents over 50% of osteogenesis imperfecta diseases

Type 2: severe form with frequent bone burns already at birth and corresponding deformation; blue scleras; already ends prenatal or shortly after birth lethal

Type 3: mostly autosomal recessive inheritance; most severe life-form with curved, thin bones and short stature, bony at birth, frequent respiratory problems; reduced life expectancy

Type 4: autosomal dominant inheritance; variable profile, similar to type 1; normal life expectancy

Type 5: variable history; hyperplastic callus, type 4