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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
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This paper discusses the achondroplastic phenotype and epidemiology, as well as the current best practices in diagnosis and care and the most relevant features for diagnosis. It includes growth charts, development screening tools, discusses most complications and concerning clinical features, how they arise, how they should be monitored and what happens if they remain unaddressed, and even sections on adaptive needs, quality of life and possible future treatments.
Pauli, R. M. (2019). Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis, 14(1), 1. doi:10.1186/s13023-018-0972-6
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"Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain."
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