A to Z of syndromes

A-Z of syndromes: Brittle bone disease

Part two of our series looking at disorders and diseases with common symptoms that constitute a syndrome
Sclera caused by brittle bone disease

Brittle bone disease is also known as osteogenesis imperfecta (OI), Vrolik syndrome and Lobstein syndrome. The condition is not gender-specific and is present in all cultures.

As the name may indicate, people living with the disease have bones that are brittle and are prone to fractures.

The disease is caused by genetic mutations. The affected genes influence the way collagen in the connective tissue is produced.

It is not one condition as such, and the severity covers a wide trajectory, from mild to life-threatening or limiting.

Transmission, symptoms and diagnosis

The genetic modes of transmission vary, with some conditions being transmitted as an autosomal dominant and others as recessive traits.

Antenatal detection is possible with ultrasound scanning. Multiple fractures and malformation should arouse suspicion, but the final diagnosis is

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