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Diseases

Genetic and Rare Diseases Information Center (GARD)

Autosomal dominant spondyloepiphyseal dysplasia tarda


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Overview

Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees.[1] Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner.[2] Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.[1]
Last updated: 12/4/2015

References

  1. Shital Parikh, MD; Chief Editor: Dennis P Grogan, MD. Spondyloepiphyseal Dysplasia. Medscape Reference. November 2015; http://emedicine.medscape.com/article/1260836-overview.
  2. SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT. OMIM. 2014; http://www.omim.org/entry/184100.
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Basic Information

  • KidsHealth from Nemours has an information page on Autosomal dominant spondyloepiphyseal dysplasia tarda. Click on the link to access this resource.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Autosomal dominant spondyloepiphyseal dysplasia tarda. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.