ACHONDROPLASIA, caused by a mutation in a gene important for normal skeletal development, is The most common form of restricted human growth and it is estimated that 360,000 people worldwide suffer from this condition. in Four out of five cases When a child is born with achondroplasia, there is no family history of the condition, as the genetic variant arose from changes in the germ line involved in the formation of the parental sperm or egg cells. In other cases, it is inherited from the affected parent as a dominant trait.
can be achondroplasia It is easily diagnosed at birth With short stature, short extremities, and a characteristic radial appearance of the pelvis and spine, confirmed by genetic testing of fibroblast growth factor receptor 3FGFR3) gene.
People with achondroplasia can experience a variety of medical complications, psychological challenges, and functional limitations from an environment that is not geared toward recognizing or supporting their needs throughout their lives. These include craniocervical junction pressure, sleep apneachallenges in accessing their environment due to disproportionate short stature, discrimination issues and pain.
To date, there has been no consensus regarding the optimal management of individuals with achondroplasia worldwide. This has led to the use of various diagnostic, monitoring and management practices in different areas with varied results. No evidence-based ‘standards of care’ have been established to improve outcomes and provide a baseline against which new treatments can be judged.
These unmet need provided the impetus for the formation of the international achondroplasia consensus group, tasked with developing consensus guidelines for the diagnosis and management of people with achondroplasia over their lifetime and across 15 medical specialties. This group of 55 participants included healthcare professionals and patient advocates from 16 countries and five continents, who came together in Oslo in late 2019 to develop this consensus statement. They have used a modified Delphi process to develop these statements, based on evidence where available and shared experience of managing this condition when not available. Two rounds of voting followed, in which the final 136 statements approved were those with an approval rating of 80% or more.
These phrases include guidelines for management of achondroplasia in pregnancy, infants, childhood, adolescence and adulthood, subspecialty management, allied health management and family-centered support and care.
It was a unanimous statement Recently published in the magazine Nature Reviews Endocrinology It has been translated into 14 languages to facilitate its dissemination to the widest possible audience. It is hoped that it will provide a valuable resource for clinicians, patients and families, as well as provide a platform for further research.
newly, Several new drug therapies have emerged to treat children with achondroplasiaIt will be important to see how the natural history and management of people with achondroplasia will evolve as these treatments develop in clinical care.
For medical practitioners who may see people with achondroplasia, it is important to be able to recognize the medical and other needs of these patients, to be able to participate in initial genetic counseling regarding the risks of passing the condition to children, and to refer to specialist skeletal centers for management. Continuing multidisciplinary.
It is hoped that New consensus statement It will facilitate these goals.
Professor Ravi Savarirayan is a clinical geneticist at the Victorian Clinical Genetics Services and Head of the Skeletal Therapeutics Group at the Murdoch Children’s Research Institute.
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