49,XXXXY syndrome

49,XXXXY syndrome: Introduction

49,XXXXY syndrome: A rare sex chromosome abnormality where there are three extra copies of the X chromosome. More detailed information about the symptoms, causes, and treatments of 49,XXXXY syndrome is available below.

Symptoms of 49,XXXXY syndrome

• Intellectual impairment
• Reduced muscle tone
• Joint laxity
• Sclerotic cranial sutures
• Low birth weight
• more symptoms...»

See full list of 38 symptoms of 49,XXXXY syndrome

49,XXXXY syndrome: Complications

Read more about complications of 49,XXXXY syndrome.

Causes of 49,XXXXY syndrome

Read more about causes of 49,XXXXY syndrome.

Disease Topics Related To 49,XXXXY syndrome

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

• Aneuploidic sex chromosomal anomaly
• Mental retardation
• Club feet
• Cleft palate
• Short stature
• Hyperextensible joints
• more related diseases...»

Less Common Symptoms of 49,XXXXY syndrome

• Obesity
• Flat back of skull
• Small head
• Arhinencephaly
• Hypoplasia of corpus callosum
• more symptoms...»

See full list of 30 occasional symptoms of 49,XXXXY syndrome

Statistics for 49,XXXXY syndrome

• Medical statistics for 49,XXXXY syndrome
• Prevalence and incidence statistics for 49,XXXXY syndrome
• Death and Mortality statistics for 49,XXXXY syndrome
• Society statistics for 49,XXXXY syndrome

49,XXXXY syndrome: Broader Related Topics

• Genetic conditions
• more types...»

Types of 49,XXXXY syndrome

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Definitions of 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

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