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Diseases » 47,XXX syndrome » Summary

What is 47,XXX syndrome?

Contents

47,XXX syndrome: Introduction
Prognosis
Other names for 47,XXX syndrome
What are the symptoms of 47,XXX syndrome?
How is it treated?
47,XXX syndrome: Introduction

What is 47,XXX syndrome?

47,XXX syndrome: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
47,XXX syndrome: A rare chromosomal aberration characterized by the presence of three X (female) chromosomes. The condition does not exhibit a distinctive phenotype and majority of the affected females are physically and mentally normal. Abnormalities are infrequent and do not occur with any regularity--they include hypertelorism, epicanthal folds, depressed nasal bridge, kyphosis and variable other anomalies. Delay in growth and mental development, when present, is usually mild. Occasionally associated with Prader-Willi syndrome.
Source - Diseases Database

47,XXX syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that 47,XXX syndrome, or a subtype of 47,XXX syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list 47,XXX syndrome as a "rare disease".
Source - Orphanet

47,XXX syndrome: Introduction