Patau Syndrome

Patau Syndrome is a rare genetic disorder also known as Trisomy 13. In people with this disorder, extra DNA from chromosome thirteen appears in some or all of their cells.

Most people with Patau Syndrome have three copies of chromosome thirteen in their cells, instead of the normal two copies. The extra material interferes with normal development, leading to severe intellectual disabilities and physical abnormalities.

Causes This rare genetic disorder occurs in one out of every 10,000 to 16,000 babies. Most people with Patau Syndrome did not inherit the disorder. Rather, it is the result of random events during the formation of eggs and sperm healthy parents. Because the disorder causes many life-threatening problems, babies with Patau Syndrome usually die within days or weeks of their birth. Less than ten percent live past their first birthday.

Diagnosis Patau Syndrome presents a number of recognizable physical features that allow doctors to diagnose the disorder. These include physical birth defects, changes to internal organs, a small head or eyes, and sometimes the absence of an eye. Eighty percent of babies with Patau Syndrome have a congenital heart defect. Sixty percent have a cleft palate or lip. Other signs include extra fingers or toes, and variations in the ear shape.

Symptoms Adults affected by Patau Syndrome may have heart defects, brain abnormalities, small or poorly developed eyes, extra fingers or toes, a cleft lip or palate, or poor muscle tone. Additional symptoms include: hernias, seizures, small head or jaw, scalp defects, low-set ears, clenched hands, undescended testicle, skeletal abnormalities, close-set or fused eyes, and mental retardation.

Complications The abnormalities associated with Patau Syndrome are usually not compatible with life. Most babies with the disorder die during their first month of life. Complications appear immediately and include feeding problems, breathing problems, seizures, heart failure, deafness, and vision problems.

Treatment Treatment for Patau Syndrome occurs on a case-by-case basis. It all depends on the particular condition. Due to the high mortality rate, surgery is usually withheld during the first few months of life. In older children, parents and doctors must weigh surgery against the severity of the physical and neurological defects. 

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