This web site uses cookies. Do you accept the use of external cookies? Yes No Know more x
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.
If you would like to take the survey later, you can click on the link at the top "Register at BA"

Master thesis by Janika Blömeke, 2015

Background: Achondroplasia is the most common form of disproportionate short stature. It is a result of an autosomal dominant mutation in the fibroblast growth factor receptor 3 gene (FGFR3), which causes an abnormality of cartilage and bone formation. Little is known about the health-related quality of life (HrQoL) of young patients with Achondroplasia and only a few HrQoL instruments exist for this patient group. To better understand the consequences and impact of this condition on the life of the affected children and adolescents, the objective of this study was to develop a condition-specific patient-reported outcome measure to assess HrQoL, wellbeing, and functioning, considering the patients’ and their parents’ perspective.

APLES - The achondroplasia Personal Life Experience Scale
To view this site you need Internet Explorer 8 (or a higher version)
or another internet browser.

Thank You.