BIRTH DEFECTS

Patau Syndrome (Trisomy 13)  
Trisomies occur when there is a triplet of a specific chromosome instead of the normal number of 2. The most common trisomy is trisomy 21 or Down syndrome. In Patau syndrome there is an extra chromosome 13 resulting in multiple and often severe physical and mental abnormalities. Some physical characteristics are flattened facial features, malformed and low-set ears, cleft lip and/or palate, prominent heels, and genital malformations. Often there are problems with the nervous system, including forebrain development, spinal cord development, mental retardation, and seizures. Vision and eye problems are common, as well as respiratory and heart defects. Approximately 45% of Patau syndrome babies die within the first month of life, while the number increases to 70% in the first 6 months.

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