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 SERPINH1 gene, which codes for a collagen important for bone matrix elasticity, was first identified in Dachshunds affected with osteogenesis imperfecta.

Penetrance: This mutation has an autosomal recessive inheritance, meaning that dogs must have two copies of the mutation in order to show clinical signs.

Gene

SERPINH1 (Exon 5)

Inheritance type

recessive

Clinical category

Skeletal

Citations

1. Drogemuller et al 2009

• Dachshund
• Dachshund
• Dachshund (Miniature)