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Patau syndrome



Introduction: Patau syndrome

A rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth.

Symptoms of Patau syndrome

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Medical Textbooks Online about Patau syndrome

Medical Books Excerpts
  • "Professional Guide to Diseases (Eighth Edition)"
  • "Professional Guide to Diseases (Eighth Edition)"

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Causes of Patau syndrome

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Prognosis for Patau syndrome

Prognosis for Patau syndrome: Poor. Low survival rates and mental retardation in those that do.

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Statistics for Patau syndrome

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Definitions of Patau syndrome:

The presence of an additional (third) chromosome on an otherwise diploid chromosome 13 with variable abnormalities, most characteristic of which are microcephaly, microphthalmia, hypertelorism, cleft lip or palate, polydactyly, and cardiovascular, genitourinary, and neurological abnormalities. It is one of the most frequent causes of perinatal deaths. - (Source - Diseases Database)

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


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