Genetics of scoliosis

Robert F. Heary, Karthik Madhavan

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


SCOLIOSIS IS ONE of the oldest known deformities of humankind; however, the cause still remains ill defined. Although there is a lack of uniform agreement on the inclusion criteria for the definition of scoliosis, most investigators agree that a coronal curve must measure at least 10 degrees for the patient to be considered to have scoliosis. A broad range of articles were reviewed and the relevant publications that contributed information regarding the genetics of scoliosis were selected for inclusion in this report. Based on family pedigree and genetic studies, the proposed pattern of inheritance for markers of scoliosis are expected to be autosomal dominant, X-linked, multigene, or multifactorial. This is further complicated by locus heterogeneity, allele heterogeneity, and carrier states found in normal individuals. Although none of these modes of inheritance has been definitively proven, it appears that a multifactorial mode of inheritance with variable penetrance is the most likely method.

Original languageEnglish (US)
Pages (from-to)A222-A227
Issue number3 SUPPL.
StatePublished - Sep 2008

All Science Journal Classification (ASJC) codes

  • Surgery
  • Clinical Neurology


  • Autosomal
  • Estrogen receptor
  • Genetics
  • Scoliosis
  • Spinal deformity
  • X-linked

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