Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders

on behalf of the Skeletal Dysplasia Management Consortium

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Purpose: Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. Because of their relative rarity and wide phenotypic variability, patients should be accurately identified, uniformly assessed, and managed by clinicians who are aware of their potential complications and possess the knowledge and resources to treat them effectively. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes. Methods: A panel of 11 multidisciplinary international experts in the field of skeletal dysplasia participated in a Delphi process, which comprised analysis of a thorough literature review with subsequent generation of 26 diagnosis and care recommendations, followed by two rounds of anonymous voting with an intervening face-to-face meeting. Those recommendations with more than 80% agreement were considered as consensual. Results: After the first voting round, consensus was reached to support 12 of 26 (46%) statements. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%). Conclusions: Consensus-based, expert best practice guidelines developed as a standard of care to assist accurate diagnosis, minimize associated health risks, and improve clinical outcomes for patients with type II collagen skeletal dysplasias.

Original languageEnglish (US)
Pages (from-to)2070-2080
Number of pages11
JournalGenetics in Medicine
Issue number9
StatePublished - Sep 1 2019


  • Delphi process
  • best practice guidelines
  • management
  • skeletal dysplasia
  • type II collagen disorder

ASJC Scopus subject areas

  • Genetics(clinical)


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