Media release

From: Murdoch Children's Research Institute (MCRI)

Research at a Glance:

• The first global standards to help diagnose and manage achondroplasia – the most common type of dwarfism – have been created following a large international research effort
• The consensus statement, led by Australia’s Murdoch Children’s Research Institute with contributions from 55 clinicians from 16 countries, aims to standardise and improve health outcomes and the quality of life for those with achondroplasia and provide a platform for further research
• The 136 recommendations cover all aspects of care from diagnostic testing, growth hormone treatment, respiratory and sleep breathing issues, pain management to nutrition

The first global standards to help diagnose and manage achondroplasia - the most common type of dwarfism- have been created following a large international research effort.

The consensus statement, led by Professor Ravi Savarirayan of the Murdoch Children’s Research Institute (MCRI) and published in Nature Reviews Endocrinology, details 136 recommendations for the optimal management of people with achondroplasia across their lifespan.

The resource, by 55 clinicians from 16 countries, aims to standardise and improve health outcomes and quality of life while providing a platform for further research.

The recommendations cover all aspects of care from diagnostic testing, growth hormone treatment, limb lengthening, growth chart screening tools, respiratory and sleep breathing issues, pain management to nutrition, physical activity and weight management.

Achondroplasia is a genetic bone disorder affecting more than 360,000 people worldwide, or about one in every 25,000 children. It is caused by a mutation in the FGFR3 gene, which slows bone growth in children’s limbs, spine, and narrows the base of the skull.

Professor Savarirayan, who chaired the international effort is also a clinical geneticist at the Victorian Clinical Genetics Services, said the global standardisation of the management of achondroplasia had been a crucial unmet need.

“Currently, variability exists in the clinical management of people with achondroplasia,” he said. This variability leads to different medical, functional and psychosocial outcomes. These differences also challenge the ability of health-care professionals, affected individuals and their families, and patient support organisations to objectively evaluate specific management protocols and interventions.”

Professor Savarirayan said due to achondroplasia’s lifelong medical, functional and psychosocial issues, adopting a multidisciplinary and pro-active approach was critical.

“Developmental milestones are different for most children with achondroplasia compared with average stature, age-matched peers,” he said. During infancy, many have medical complications such as sleep-disordered breathing, which can increase the risk of sudden death if not diagnosed and treated appropriately.

“Conductive hearing loss is common and might affect speech development in children. Musculoskeletal manifestations are prevalent and can lead to chronic pain in adults. Physical function and health can decline, notably in the fourth decade of life.

“Achondroplasia can also be associated with reduced quality of life due to functional impairments and psychosocial challenges and, in some individuals, the condition is associated with reduced life expectancy. These new standards will help improve the clinical and psychosocial care of those with achondroplasia throughout their life.”

Publication: ‘International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia,’ Nature Reviews Endocrinology. DOI: 10.1038/s41574-021-00595-x

Available for interview:

Professor Ravi Savarirayan, Group Leader, Skeletal Therapies, Murdoch Children’s Research Institute