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Skeletal dysplasias

Last updated: October 5, 2021

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Skeletal dysplasias are a group of genetic disorders that affect the development of bone and cartilage. The disorders may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Some skeletal dysplasias can be detected as early as the prenatal period, while others manifest later in life, typically during childhood or adolescence. Achondroplasia, characterized by disproportionate short stature and craniofacial abnormalities, is the most common type of skeletal dysplasia. Osteogenesis imperfecta is a bone disease characterized by impaired osteogenesis that results in brittle bones that fracture easily, while osteopetrosis is a high-density bone disease that results in increased sclerotic thickening of the skeleton on radiological examination. Campomelic syndrome is a life-threatening disorder characterized by skeletal dysplasia, abnormal sex development, and other congenital defects due to SOX9 gene mutations.

References:[3]

Individuals with osteogenesis imperfecta can't BITE: Bones (recurrent fractures), I (“eye” = blue sclerae), Teeth (dental abnormalities), Ears (hearing loss).

Bone fractures from osteogenesis imperfecta are easily mistaken for signs of child maltreatment.

References:[8]

  1. Achondroplasia. https://rarediseases.info.nih.gov/diseases/8173/achondroplasia. Updated: November 1, 2019. Accessed: November 13, 2019.
  2. Ireland P, Pacey V, Zankl A, Edwards P, Johnson L, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014 : p.117-125. doi: 10.2147/tacg.s51485 . | Open in Read by QxMD
  3. Achondroplasia. https://ghr.nlm.nih.gov/condition/achondroplasia. Updated: February 14, 2017. Accessed: February 16, 2017.
  4. Gupta RK. Long bone fractures in osteopetrosis: awareness of primary pathology and appropriate pre-operative planning necessary to avoid pitfalls in fixation. Injury Extra. 2005; 36 (9): p.411. doi: 10.1016/j.injury.2004.05.032 . | Open in Read by QxMD
  5. Forlino A, Cabral WA, Barnes AM, Marini JC. New Perspectives on Osteogenesis Imperfecta. Nat Rev Endocrinol.. 2011 . doi: 10.1038/nrendo.2011.81 . | Open in Read by QxMD
  6. COL1A1/2-Related Osteogenesis Imperfecta. https://www.ncbi.nlm.nih.gov/books/NBK1295/. Updated: February 14, 2013. Accessed: February 20, 2018.
  7. Types of OI. http://www.oif.org/site/PageServer?pagename=AOI_Types. Updated: February 16, 2017. Accessed: February 16, 2017.
  8. Fast Facts on Osteogenesis Imperfecta. http://www.oif.org/site/PageServer?pagename=fastfacts. Updated: February 16, 2017. Accessed: February 16, 2017.
  9. Campomelic dysplasia. https://rarediseases.org/rare-diseases/campomelic-syndrome/. Updated: January 1, 2007. Accessed: November 19, 2019.
  10. Campomelic dysplasia. https://ghr.nlm.nih.gov/condition/campomelic-dysplasia#diagnosis. Updated: November 12, 2019. Accessed: November 19, 2019.