Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

49,XXXXY syndrome


Other Names for this Disease
  • XXXXY syndrome
  • 49,XXXXY
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

49,XXXXY syndrome is a type of chromosome abnormality characterized by the presence of 3 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe.[1] Signs and symptoms of 49,XXXXY syndrome can vary but may include learning difficulties or intellectual disability; low muscle tone; hypogonadism; infertility; delayed growth; distinctive facial features; and a variety of birth defects that may affect the heart, bones, brain and/or kidneys.[1][2] It is usually not inherited and caused by a random error in cell division. Treatment depends on the features in each person and is often managed by a multidisciplinary team.[1]
Last updated: 5/12/2016

References

  1. Carole Corsini and Pierre Sarda. 49,XXXXY syndrome. Orphanet. May, 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264.
  2. 49,XXXXY. Unique. 2015; http://www.rarechromo.org/information/Chromosome_X/XXXXY%20syndrome%20FTNW.pdf.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 49,XXXXY syndrome.

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.
  • 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 49,XXXXY syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • XXXXY syndrome
  • 49,XXXXY
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.