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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: 9/24/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for 47 XXX syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of chromosome segregation 90%
Clinodactyly of the 5th finger 50%
Cognitive impairment 50%
Epicanthus 50%
Muscular hypotonia 50%
Tall stature 50%
Abnormality of the hip bone 7.5%
Attention deficit hyperactivity disorder 7.5%
Hypertelorism 7.5%
Joint hypermobility 7.5%
Multicystic kidney dysplasia 7.5%
Pectus excavatum 7.5%
Renal hypoplasia/aplasia 7.5%
Secondary amenorrhea 7.5%
Seizures 7.5%
Tremor 7.5%
Upslanted palpebral fissure 7.5%

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Triple X syndrome. Mayo Clinic. November 8, 2012; http://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/basics/definition/con-20033705?p=1. Accessed 9/24/2014.
  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 9/24/2014.
  3. Triple X syndrome. Genetics Home Reference. June 2014; http://ghr.nlm.nih.gov/condition/triple-x-syndrome. Accessed 9/24/2014.


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.