Health Supervision for People With Achondroplasia

Authors:
  • CGCOMMITTEE ON GENETICS
    COMMITTEE ON GENETICS
  • ECEmily Chen
    Emily Chen
  • TTTracy L. Trotter
    Tracy L. Trotter
  • SBSusan A. Berry
    Susan A. Berry
  • LBLeah W. Burke
    Leah W. Burke
  • TGTimothy A. Geleske
    Timothy A. Geleske
  • RHRizwan Hamid
    Rizwan Hamid
  • RHRobert J. Hopkin
    Robert J. Hopkin
  • WIWendy J. Introne
    Wendy J. Introne
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Abstract
Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. Potential medical complications associated with achondroplasia include lower extremity long bone bowing, middle-ear dysfunction, obstructive sleep apnea, and, more rarely, cervicomedullary compression, hydrocephalus, thoracolumbar kyphosis, and central sleep apnea. This is the second revision to the original 1995 health supervision guidance from the American Academy of Pediatrics for caring for patients with achondroplasia. Although many of the previously published recommendations remain appropriate for contemporary medical care, this document highlights interval advancements in the clinical methods available to monitor for complications associated with achondroplasia. This document is intended to provide guidance for health care providers to help identify individual patients at high risk of developing serious sequelae and to enable intervention before complications develop.

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