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Diseases » 49,XXXXX syndrome » Summary

What is 49,XXXXX syndrome?

What is 49,XXXXX syndrome?

  • 49,XXXXX syndrome: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
  • 49,XXXXX syndrome: Presence of five X chromosomes (49,XXXXX) associated with short stature, delayed psychomotor development, characteristic facies with upslanting palpebral fissures, micromelia with radioulnar synostosis, and other abnormalities.
    Source - Diseases Database

49,XXXXX 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,XXXXX syndrome, or a subtype of 49,XXXXX 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,XXXXX syndrome as a "rare disease".
Source - Orphanet

49,XXXXX syndrome: Introduction

Types of 49,XXXXX syndrome:

Broader types of 49,XXXXX syndrome:

How serious is 49,XXXXX syndrome?

Prognosis of 49,XXXXX syndrome: The prognosis varies considerably depending on the type and severity of symptoms that develop. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.
Complications of 49,XXXXX syndrome: see complications of 49,XXXXX syndrome

What causes 49,XXXXX syndrome?

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

What are the symptoms of 49,XXXXX syndrome?

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

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

49,XXXXX syndrome: Testing

Diagnostic testing: see tests for 49,XXXXX syndrome.

Misdiagnosis: see misdiagnosis and 49,XXXXX syndrome.

How is it treated?

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

Name and Aliases of 49,XXXXX syndrome

Main name of condition: 49,XXXXX syndrome

Other names or spellings for 49,XXXXX syndrome:

Pentasomy X, Chromosome XXXXX syndrome, Penta-X syndrome, Pentasomy X syndrome, Chromosome X pentasomy

Penta X syndrome Source - Diseases Database

Chromosome X pentasomy, Chromosome XXXXX syndrome, Penta-X syndrome, Pentasomy X, Pentasomy X syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

49,XXXXX syndrome: Related Conditions

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

  • Short stature
  • Delayed psychomotor development
  • Characteristic facies with upslanting palpebral fissures
  • Micromelia with radioulnar synostosis

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