What is Patau's Syndrome?

Patau's syndrome is an uncommon chromosomal disorder that usually causes a host of developmental problems and physical deformities in a newborn. The condition results from a genetic mutation that builds an extra copy of chromosome 13. Spontaneous abortion is a common consequence of the disorder, as a fetus's major organ systems, including the heart, may be rendered ineffective. An infant who survives to birth usually exhibits a number of telling physical signs of the disorder, including a cleft lip and limb abnormalities. Emergency medicine and careful monitoring are necessary to give a baby the best chances of surviving past first few hours of life.

The process by which Patau's syndrome develops is well understood, though underlying causes and risk factors are largely unknown. Many researchers believe that the risk increases with the age of expecting mothers, as most cases are seen in babies born to women over the age of 30. Patau's syndrome is categorized as a trisomy disorder, such as Down syndrome, meaning that part or all of an extra chromosome emerges around the time of conception. The additional copy of chromosome 13 severely affects the development of the heart, lungs, brain, and other major body organs.

Besides the defects in internal organs, a baby who suffers from Patau's syndrome is likely to have a smaller-than-average skull, a cleft lip, and abnormally-shaped limbs. His or her feet may appear rounded, and extra fingers or toes may be present. The eyes are usually very close together, and the ears may be set very low on the head. In addition, nearly every infant born with the condition experiences severe cognitive deficits.

Treatment for Patau's syndrome depends on the patient's specific symptoms. Emergency surgery may be needed in the case of significant heart or lung deformities in order to promote proper blood and air circulation. Most babies with Patau's syndrome are unable to breathe sufficiently on their own, and must be placed on mechanical ventilators right away. Ongoing hospital care may involve a feeding tube, intravenous medications, and constant monitoring of vital signs.

Infants with Patau's syndrome usually need to remain in the hospital for several weeks or months so doctors can document all existing problems and check for potential complications. If a baby appears stable and major defects have been corrected, he or she may be allowed to go home. Even in what are considered milder instances of Patau's syndrome, it is rare for a baby to survive through early childhood without chronic health issues.