Skeletal Dysplasias: Genetics


The skeletal dysplasias and dysostoses are a group of genetic disorders that manifest as disproportionate short stature, deformity and various medical complications. Dysplasias may result from genetic mutations that affect structural components, metabolic pathways, signal transduction mechanisms or gene expression patterns involved in skeletal growth and development.

Keywords: genetic disease; skeleton; cartilage; short stature; genetic mutations


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Further Reading

Hermanns P and Lee B (2001) Transcriptional dysregulation in skeletal malformation syndromes. American Journal of Medical Genetics 106: 258–271.

McLean W and Olsen BR (2001) Mouse models of abnormal skeletal development and homeostasis. Trends in Genetics 17: S38–S43.

Pourquie O and Kusumi K (2001) When body segmentation goes wrong. Clinical Genetics 60: 409–416.

Spranger J, Brill P and Poznanski A (2002) Bone Dysplasias – An Atlas of Genetic Disorders of Skeletal Development. 2nd edn, New York, NY: Oxford University Press.

Taybi H and Lachman RS (1996) Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias, 4th edn. St Louis, MO: Mosby‐Year Book, Inc.

Wilkie AO (1997) Craniosynostosis: genes and mechanisms. Human Molecular Genetics 6: 1647–1656.

Web Links

Achondroplasia (ACH); LocusID: 2261. LocusLink:

Achondroplasia (ACH); LocusID: 2261. LocusLink:

Osteogenesis imperfecta (OI); LocusID: 1277, 1278, 12843. LocusLink:,1278,12843

Pseudoachondroplasia (PSACH); LocusID: 1311. LocusLink:

Achondroplasia (ACH); MIM number100800. OMIM:‐post/Omim/dispmim?100800

Cleidocranial dysplasia; MIM number 119600. OMIM:‐post/Omim/dispmim?119600

Dyschondrosteosis Léri–Weill; MIM number 127300. OMIM:‐post/Omim/dispmim?127300

Osteogenesis imperfecta (OI); MIM numbers 166200, 166210, 166220, 166240. OMIM:‐post/Omim/dispmim?166200,166210,166220,166240

Pseudoachondroplasia (PSACH); MIM number 177170. OMIM:‐post/Omim/dispmim?177170

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How to Cite close
Superti‐Furga, Andrea, and Unger, Sheila(Jan 2006) Skeletal Dysplasias: Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005514]