Osteogenesis Imperfecta, Brittle Bone Disease

Affected dogs often present to the vet for spontaneous bone fractures, tooth fractures and loss, and joint pain.

Signs are first recognized in puppies.

Genetic testing, clinical signs, radiographs, and laboratory tests are all used to diagnose this condition.

Currently, there is no treatment for this condition. Medications may be prescribed to help with pain.

Talk to your vet about your dog’s osteogenesis imperfecta result so you can plan appropriate monitoring and care.

The severity of this condition can vary. Focus on your dog’s comfort and safety at home.

Handle your dog gently and avoid situations where they could fall, jump, or be jostled, such as stairs, rough play, or dog parks.

Provide a soft, padded environment with rugs or mats to reduce slipping and cushion accidental impacts.

A mutation in the COL1A1 gene, which codes for a collagen subunit important for bone matrix elasticity, was first identified in Dachshunds affected with osteogenesis imperfecta.

Penetrance: This is a dominant mutation, meaning a dog only needs one mutant allele to show signs of the disease.

Gene

COL1A1 (Exon 18)

Inheritance type

dominant

Clinical category

Skeletal

Citations

1. Campbell et al 2000

• Golden Retriever