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 led by Australia’s Murdoch Children’s Research Institute.
The consensus statement, with contributions from 55 clinicians across 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.
Chaired by the MCRI’s Professor Ravi Savarirayan and published in Nature Reviews Endocrinology, the statement details 136 recommendations for the optimal management of people with achondroplasia across their lifespan.
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.
There are over 200 distinct forms of dwarfism and skeletal dysplasia’s, and an estimated 651,000 people worldwide have such a condition, of which 360,000 are affected by Achondroplasia.
Short Statured People of Australia estimate that there are over 1,100 Australians with achondroplasia, and that the two biggest challenges facing people with short stature are acceptance and a general lack of knowledge and information.
Children with achondroplasia can thrive and become adults with independent and fulfilling lives, however, the spectrum of medical complications and the social and psychological burden in children and adults with achondroplasia are well known.
Professor Savarirayan said the global standardisation of the management of achondroplasia had been a crucial unmet need, and due to achondroplasia’s lifelong medical, functional, and psychosocial issues, adopting a multidisciplinary and pro-active approach was critical.
“Currently, variability exists in the clinical management of people with achondroplasia, [and] this variability leads to different medical, functional, and psychosocial outcomes,” he said.
“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.”
For example, limb lengthening is advised in some countries but not recommended in others and is highly dependent on the policies of local advocacy groups.
Achondroplasia is a genetic disorder caused by a mutation in the FGFR3 gene, which slows bone growth in children’s limbs, spine, and narrows the base of the skull, resulting in disproportionately short arms and legs, with affected adults reaching an average height of four foot.
The mutation is spontaneous and can happen in any pregnancy – 80% of people with dwarfism have average-height parents and siblings.
Achondroplasia can 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
“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,” Professor Savarirayan explained.
“Developmental milestones are different for most children with achondroplasia compared with average stature, age-matched peers, [and] conductive hearing loss is common and might affect speech development in children.
“Musculoskeletal manifestations are prevalent and can lead to chronic pain in adults and physical function and health can decline, notably in the fourth decade of life.”
Given that access to specialized care is a major challenge in all regions of the world where clinicians with expertise in achondroplasia are unavailable, the 136 recommendations address both management strategies and key medical areas of concern in specialist areas:
- Diagnosis, counselling and pregnancy –10 recommendations dealing with diagnostics, genetics and molecular testing.
- Pregnancy – 12 recommendations on factors such as pre-conception medical evaluation, management of preterm labour and management of the delivery.
- Management of achondroplasia in infants – 10 recommendations for infants and young children.
- Foramen magnum stenosis – 10 recommendations dealing with this well-recognized complication.
- Growth and development – 9 recommendations on the need to regularly monitor the growth and development of children and adolescents.
- Management in childhood – 14 points covering issues from developmental delays to surgical interventions and medical monitoring.
- Management in adolescence – 7 recommendations for assisting with wellbeing and lifestyle choices, including associated comorbidities such as obesity and spinal stenosis.
- Management in adulthood – 11 recommendations covering factors such as increased risk of hearing impairment, high prevalence of pain and declining physical health that affects daily functioning.
- Spine – 5 recommendations dealing with issues such as thoracolumbar kyphosis.
- Extremities (genu varum) – 6 recommendations addressing the lower extremity malalignment (genu varum occurring in 40 to 70% of individuals).
- Extremities (limb lengthening) – 2 recommendations.
- Respiratory system and sleep-disordered breathing – 8 recommendations dealing with OSA.
- Ear, nose and throat – 6 points, highlighting that recurrent otitis media and hearing loss as well as links to midface hypoplasia, shortened eustachian tubes, small pharynx, and relative enlargement of tonsils and adenoids.
- Orthodontics and maxillofacial surgery – 3 recommendations for children with maxillary hypoplasia, relative mandibular prognathism, class III malocclusion and macroglossia.
- Anaesthesia – 3 points dealing with the fact that Anaesthesia may be challenging in older patients.
- Pain and function – 7 recommendations addressing the high prevalence of pain in achondroplasia that increases with age and affects daily functioning.
- Nutrition, physical activity and weight management – 3 recommendations on the disproportionately elevated risk of obesity and its associated risks.
- Psychosocial issues, family perspectives and support – 9 recommendations.