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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spondyloepiphyseal dysplasia tarda Toledo type


Other Names for this Disease
  • Brachyolmia type 1, Toledo type
  • SED, chondroitin sulfate type
  • PAPS-chondroitin sulfate sulfotransferase deficiency
  • Toledo type brachyolmia
Related Diseases
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Overview

Spondyloepiphyseal dysplasia tarda Toledo type is a genetic disorder of bone and cartilage that causes the skeleton to develop abnormally. Major signs and symptoms include short stature beginning in late childhood or early teens mainly due to a shortened trunk. Other signs and symptoms include peripheral punctate corneal opacities and abnormal excretion of glycosaminoglycans.[1] It is inherited in an autosomal recessive fashion.[1]
Last updated: 5/5/2010

References

  1. Shohat M, Halpern GJ. Brachyolmia. Orphanet Encyclopedia. July 2004; http://www.orpha.net/data/patho/GB/uk-brachyolmia.pdf. Accessed 5/5/2010.
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In Depth Information

  • 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 Spondyloepiphyseal dysplasia tarda Toledo type. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • Shohat M, Halpern GJ. Brachyolmia. Orphanet Encyclopedia. July 2004. (Includes information on spondyloepiphysel dysplasia tarda Toledo type)
Other Names for this Disease
  • Brachyolmia type 1, Toledo type
  • SED, chondroitin sulfate type
  • PAPS-chondroitin sulfate sulfotransferase deficiency
  • Toledo type brachyolmia
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.