Fragile X syndrome

Overview

Are there other names for fragile X syndrome?

Fragile X syndrome is also known by the following names:

  • X-linked mental retardation and macroorchidism
  • Martin-Bell syndrome
  • fragile X mental retardation
  • FRAXA syndrome
  • fra(X) syndrome
  • marker X syndrome
  • Escalante's syndrome
  • FXS

There are multiple names for fragile X syndrome, so it is important to make sure families and doctors are on the same page and using the same name. If a doctor is using an unfamiliar term, ask them if they are using a different name for fragile X syndrome. Another reliable source for alternative names for fragile X syndrome is the Genetics Home Reference website, which can be found at Genetics Home Reference Fragile X Synonyms.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fragile-x-syndrome/overview/18021 • DATE UPDATED: 2016-06-09

References

http://ghr.nlm.nih.gov/condition/fragile-x-syndrome

http://www.ncbi.nlm.nih.gov/books/NBK1384/

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