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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spondylocostal dysostosis 3


Other Names for this Disease
  • SCOD3
  • Spondylocostal dysostosis 3, autosomal recessive
  • Autosomal recessive spondylocostal dysostosis
  • Jarcho-Levin syndrome
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Overview

Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited.[1] 

Spondylocostal dysostosis 3 is caused by mutations in the LFNG gene. It is inherited in an autosomal recessive manner.[2] Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.[3]
Last updated: 1/6/2016

References

  1. Spondylocostal dysostosis. Genetics Home Reference (GHR). February 2011; http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis. Accessed 10/23/2015.
  2. SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3. Online Mendelian Inheritance in Man (OMIM). February 5, 2014; http://www.omim.org/entry/609813. Accessed 1/6/2016.
  3. Turnpenny PD, Young E. Spondylocostal Dysostosis, Autosomal Recessive. GeneReviews. January 2013; http://www.ncbi.nlm.nih.gov/books/NBK8828/. Accessed 10/23/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Spondylocostal dysostosis 3. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spondylocostal dysostosis 3. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SCOD3
  • Spondylocostal dysostosis 3, autosomal recessive
  • Autosomal recessive spondylocostal dysostosis
  • Jarcho-Levin syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.