Bone Dysplasia Registry
What we do
Bone dysplasias are genetic disorders affecting the normal growth and development of the skeleton. Over 300 different kinds of bone dysplasias are currently recognised. This includes conditions that cause short stature (e.g. Achondroplasia, spondyloepiphyseal dysplasia), bone fragility (e.g. osteogenesis imperfecta) or congenital skeletal malformations (e.g. spondylocostal dysostosis). Since most bone dysplasias are very rare (less than 1 in 10,000 births), research on bone dysplasias remains very limited.
The Queensland Bone Dysplasia Registry collects clinical information on children and adults with bone dysplasias and follows them over time. This allows us to get a better understanding of the natural history, medical complications and best treatment for these conditions and will ultimately result in better care for people with bone dysplasias.
Of course, all information is treated confidentially and analysed in an anonymous fashion. If desired, the registry can also help establish contacts between people with the same diagnosis.
How you can help
Since bone dysplasias are so rare, it is important that as many people as possible participate in the registry.
If you or your child have a bone dysplasia
If you or your child have a bone dysplasia, please fill out our contact form (see link below) and the registry coordinator will get in touch with you shortly. Alternatively, you can print out the Participation Pack (see link below), and sign and return the enclosed consent form.
Contact Form
Participation Pack (PDF)
If you are a health care professional
If you care for patients with bone dysplasias please consider referring them to the registry. The easiest way to do this to fill out and return the 'First Contact Form' (see link below). Alternatively, you can print out the Participation Pack (see link below), and ask your patient to sign and return the enclosed consent form.