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Diseases

Genetic and Rare Diseases Information Center (GARD)

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47 XXX syndrome


Other Names for this Disease

  • Triple X syndrome
  • Triple-X chromosome syndrome
  • Triple-X female
  • Triplo X syndrome
  • Trisomy X
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Symptoms

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What are the signs and symptoms of 47 XXX syndrome?

Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced.[1] Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. Minor physical findings can be present in some individuals and may include epicanthal folds, hypertelorism (widely spaced eyes), upslanting palpebral fissures, clinodactyly, overlapping digits (fingers or toes), pes planus (flat foot), and pectus excavatum.[2] The condition is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. Most females with the condition have normal sexual development and are able to conceive children.[3] However, some individuals have been found to have premature ovarian failure, or ovary abnormalities (such as malformed ovaries).[1]
Last updated: 1/8/2011

References
  1. Triple X syndrome. Mayo Clinic. August 17, 2010; http://www.mayoclinic.com/health/triple-x-syndrome/DS01090/METHOD=print. Accessed 1/8/2011.
  2. Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, Lennie Wilson. A review of trisomy X (47,XXX). Orphanet Journal of Rare Diseases. May 2010; 11:5-8. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883963/?tool=pubmed. Accessed 1/8/2011.
  3. Triple X syndrome. Genetics Home Reference. January 2009; http://ghr.nlm.nih.gov/condition/triple-x-syndrome. Accessed 1/8/2011.


Other Names for this Disease
  • Triple X syndrome
  • Triple-X chromosome syndrome
  • Triple-X female
  • Triplo X syndrome
  • Trisomy X
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.