Table 2.

Common Physical Findings in Spondylometaphyseal Dysplasia, Corner Fracture Type

Physical Fnding# of Person w/Finding/
# Examined
Short stature19/19
Short lower extremities5/7
Short upper extremities3/3
Short trunk4/6
Genu varum8/18
Genu valgum5/17
Pectus carinatum6/14
Limited mobility 18/8
Musculoskeletal pain5/6
Vision impairment3/5
Accentuated lumbar lordosis 22/3

Limited mobility was reported secondary to pain and/or limb deformity.


To date, only reported in individuals with COL2A1-SMDCF

From: Spondylometaphyseal Dysplasia, Corner Fracture Type

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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 ( 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.