Osteogenesis imperfecta (Group of conditions)

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Summary

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic skeletal conditions. OI is characterised by bones that are fragile and may fracture or break easily. OI can also affect other body parts such as the teeth, hearing, lung, heart, muscle and ligament.

Symptoms and severity of OI vary widely between individuals. Both males and females can be affected. OI are categorised into different types based on the gene affected and the symptoms. Common types of OI include:

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms and Classifications

Synonyms: brittle bone disease, glass bone disease, Lobstein disease, Lobstein’s syndrome, OI, Osteopsathyrosis, Porak and Durante disease, Vrolik’s disease.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

Symptoms

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Disability Impacts

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Cause and Inheritance

OI are genetic conditions, and more than 20 genes have been identified that to be affected in OI.

The majority of OI are caused by disease-causing genetic changes (variants) in COL1A1 or COL1A2 genes. These genes produce type 1 collagen, which provide strength and structure in bones, skin, tendons and ligaments. Variants in these genes result in reduced type 1 collagen, which leads to brittle bones. OI can also be caused by variants in certain genes important for the production of collagen and bones.

For most individuals with OI, the genetic variants are passed down (inherited) from their parents in an autosomal dominant (most common), autosomal recessive or X-linked manner. In some cases, OI can occur randomly (de novo) before birth and is not inherited from their parents. More information on these inheritance patterns can be found at:

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

Diagnosis

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

Treatment

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical Care Team

Healthcare professionals involved in the treatment of OI may include general practitioners (GP), physiotherapists, occupational therapists, orthopaedic surgeons, dietitians and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

ORPHA:666 Osteogenesis imperfecta

ICD-11: LD24.K0 Osteogenesis imperfecta

A classification of the different types of OI can be found at Nosology of genetic skeletal disorders: 2023 revision developed by the International Skeletal Dysplasia Society.

Clinical Care Guidelines

If you know of any relevant care guidelines, please let us know via the Contribute page.

Emergency Management

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

Research

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries. For more information, please visit the RARE Portal’s Considerations for Participating in Health and Medical Research page.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

It is best to discuss your interest in research, including clinical trials,  with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Australian Organisation:

Osteogenesis Imperfecta Society of Australia

Website: https://www.oiaustralia.org.au/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Lived Experience

OI vary between individuals, and each person’s experience is unique.

Personal story shared with RVA: Lily’s story

Osteogenesis Imperfecta Society of Australia: Stories has personal stories of people living with OI.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Support Services and Resources

South Australia Department for Education: Supporting children and students with osteogenesis imperfecta has information for educators, care services, parents, and health professionals to support children with OI in education and care settings in South Australia.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

Mental Health

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

Other Information

Further information on OI can be found at:

Useful Links for Healthcare Professionals

GeneReviews®: COL1A1– and COL1A2-Related Osteogenesis Imperfecta

Orphanet: Osteogenesis imperfecta

Human Phenotype Ontology (HPO): Osteogenesis imperfecta

Contributors

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. If you would like to see more information added to this page, please reach out via the Contact form. If you would like to share relevant resources for this condition, please visit the Contribute page.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.