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Diseases » 49,XXXXY syndrome » Summary

What is 49,XXXXY syndrome?

What is 49,XXXXY syndrome?

  • 49,XXXXY syndrome: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
  • 49,XXXXY syndrome: A sex chromosome aneuploidy with an incidence of 1 in 85,000 male births. Principal findings include radioulnar synostosis, hypogonadism, mental retardation, and speech disorders. Associated disorders ara variable and may include characteristic facies, multiple skeletal abnormalities, and cardiac and genital malformations. Many features are similar to those seen in the Klinefelter syndrome (chromosome XXY syndrome), hence the synonym Klinefelter variant.
    Source - Diseases Database

49,XXXXY syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that 49,XXXXY syndrome, or a subtype of 49,XXXXY 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 49,XXXXY syndrome as a "rare disease".
Source - Orphanet

49,XXXXY syndrome: Introduction

Types of 49,XXXXY syndrome:

Broader types of 49,XXXXY syndrome:

How serious is 49,XXXXY syndrome?

Complications of 49,XXXXY syndrome: see complications of 49,XXXXY syndrome

What causes 49,XXXXY syndrome?

Causes of 49,XXXXY syndrome: see causes of 49,XXXXY syndrome

What are the symptoms of 49,XXXXY syndrome?

Symptoms of 49,XXXXY syndrome: see symptoms of 49,XXXXY syndrome

Complications of 49,XXXXY syndrome: see complications of 49,XXXXY syndrome

How is it treated?

Doctors and Medical Specialists for 49,XXXXY syndrome: Medical Geneticist ; see also doctors and medical specialists for 49,XXXXY syndrome.
Treatments for 49,XXXXY syndrome: see treatments for 49,XXXXY syndrome

Name and Aliases of 49,XXXXY syndrome

Main name of condition: 49,XXXXY syndrome

Other names or spellings for 49,XXXXY syndrome:

Klinefelter variant Source - Diseases Database

XXXY males, Klinefelter syndrome, variants, 48,XXXY syndrome, 48,XXYY syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

49,XXXXY syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, 49,XXXXY syndrome:


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