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Name of disorder: Patau Syndrome
Discovery: It was first observed by Thomas Bartholin in 1657, but was ascertained by Dr. Klaus Patau in 1960

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Patau Syndrome occurs when an additional chromosome is added to Trisomy 13. Prenatal screening test and pregnancy ultrasounds can reveal possible chromosome conditions but only a genetic test can provide a diagnosis.

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In Patau Syndrome they can form abnormally small head, birth defect with intestinal organs outside of body, cleft lip, extra fingers and toes, low-set ears, low birth weight. Things such as failure to thrive, episodes of no breathing, seizures, and heart murmurs can happen to the body. Mentally it causes severe intellectual disabilities.

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The statstics are very rare with fewer than 20,000 cases per year in the US. It usually affects babies (0-2 years) with older ages being much more rare. Most infants don’t live past their first week of life with Patau Syndrome.

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trisomy 13 causes severe intellectual disabilities and many physical abnormalities, such as congenital heart defects.

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Treatments consist of therapy and supportive care. Treatment though can vary from child to child. The therapy focuses on reliving symptoms and managing complications. Tracheotomy is a medical procedure used that surgically creates a hole in the neck leading to the windpipe; often used to insert a breathing tube.