Life span care for patients with skeletal dysplasia: A roadmap

Wouter H. Nijhuis*, Marjolein Verhoef, Ralph J.B. Sakkers

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Patients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which patients with skeletal dysplasia face challenges will change and the focus and frequency of the interdisciplinary care should change accordingly. Thorough understanding of the specific characteristics of different skeletal dysplasias is required to create an individualized efficient interdisciplinary screening and care program. This paper presents the current structure and rationale of the interdisciplinary screening and care program of the skeletal dysplasia expert center of the University Medical Center Utrecht in the Netherlands. It is presented here, tailored to osteogenesis imperfecta, but the structure of the program is generic for all skeletal dysplasias.

Original languageEnglish
Article number104851
Pages (from-to)1-5
Number of pages5
JournalEuropean Journal of Medical Genetics
Issue number11
Publication statusPublished - Nov 2023


  • Interdisciplinary health teams
  • Life span care
  • Osteogenesis imperfecta
  • Outcome measures
  • Screening program
  • Skeletal dysplasia


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