Table 5. [COMP-Related Pseudoachondroplasia: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Growth	Height measurement & plotting of growth on COMP-PSACH growth chart	At each visit throughout childhood
Skeletal manifestations	Assessment w/orthopedist for: Symptoms related to joint hypermobility Symptomatic lower limb malalignment Evidence of kyphoscoliosis Evidence of degenerative joint disease manifesting as joint pain	Annually or at each visit
Radiographs of spine or affected joints	As needed per orthopedist or clinical geneticist
Neurologic manifestations	Assess for signs/symptoms of spinal cord compression secondary to odontoid hypoplasia	At each visit in early childhood
Eval of cervical vertebrae by flexion/extension radiographs or cervical spine MRI, esp in persons w/neurologic symptoms suggestive of cord compression	As needed
Psychosocial	Assess for psychosocial issues related to short stature, incl stigmatization & discrimination	Annually or at each visit

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.