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Background Little is known about the spectrum of everyday challenges that people with skeletal dysplasia face because of their health and functioning. We aimed to identify factors related to health, functioning and disability in people with skeletal dysplasia, and their challenges with accessibility in order to form a self-reported questionnaire for national data collection. The comprehensive musculoskeletal post-acute core set of the International Classification of Functioning, Disability and Health (ICF) was used as a framework. Methods An iterative, participatory and qualitative process was used to formulate a questionnaire. Items were searched from Patient-Reported Outcomes Measurement Information System and from other self-report instruments, additional items were formulated using ICF linking rules. Expert panels from the target population assessed the face and content validity in thematic interviews. Results The questionnaire demonstrated its relevance, comprehensiveness and feasibility for people with skeletal dysplasia. The ICF linkages showed the contents’ correspondence to the construct. Expert panels added 15 categories and one on chapter level to the core set and confirmed content validity. The final survey covers 86 ICF categories and 173 ICF-linked items that were grouped to 33 questions. Conclusions The content of the questionnaire proved to be sufficiently valid for people with skeletal dysplasia. It can be used to explore their health, functioning, disability and accessibility to develop care and rehabilitation policies, to plan services and to provide information to various parties involved.

Background Skeletal dysplasias are rare disorders often leading to severe short stature. This study aimed to gain new comprehensive information about functioning and equality in people affected by skeletal dysplasia compared to matched controls without skeletal dysplasia. Methods Functioning was assessed by questionnaire, which was formed by operationalizing International Classification of Functioning, Disability and Health (ICF) core set’s categories into the items according to the ICF linking rules, using primarily Patient Reported Outcomes Measurement Information System PROMIS® - items. Results Altogether 80 subjects with skeletal dysplasia and 55 age-, gender- and place of residence -matched controls participated. People with skeletal dysplasia experienced more pain (p p = 0.037) compared to the controls. They had more problems related to musculoskeletal functions and exercise tolerance, difficulties in mobility, used more assistive products and technology and were more affected by climate and seasonal changes (p p p = 0.007). They felt less satisfied with remunerative work (p = 0.003), felt more inequality (p = 0.008), met more negative attitudes of others (p p = 0.022). They used more social and health services and experienced more dissatisfaction with those. Conclusions Our study indicates that skeletal dysplasias restrict functioning extensively and significantly affect daily living. By building accessible environment and improving equal services, functioning could be improved.