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Genetic and Rare Diseases Information Center (GARD)

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Spondyloepiphyseal dysplasia tarda Toledo type


Other Names for this Disease

  • Brachyolmia type 1, Toledo type
  • PAPS-chondroitin sulfate sulfotransferase deficiency
  • SED, chondroitin sulfate type
  • Toledo type brachyolmia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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

  • 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
  • PAPS-chondroitin sulfate sulfotransferase deficiency
  • SED, chondroitin sulfate type
  • Toledo type brachyolmia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.