What Are the Signs & Symptoms of Trisomy 13 Disease?

Trisomy 13 disease, also known as Patau Syndrome, is a chromosomal disorder in which an individual has an extra 13th chromosome. Trisomy 13 is not inherited but rather results from random malformation of the sperm and/or eggs of the parents. Luckily, trisomy 13 is a rare disorder occurring in just 1 of every 16,000 births, according to the National Institutes of Health.

Chromosomal Symptoms

• The first and most obvious symptoms of trisomy 13 is the presence of a third chromosome 13. Modern technology now allows doctors to detect the presence of genetic disorders such as Patau Syndrome in early stages of pregnancy. The third chromosome may present itself as a complete chromosome or may actually develop attached to another chromosome.

Facial Symptoms

• Infants with trisomy 13 often suffer from cleft lip, or an abnormal opening in the lip; cleft palate, or an abnormal opening in the roof of the mouth; microphthalmia, or smaller-than-normal eyes as well as close-set eyes or eyes that mesh into one; missing skin on the scalp; low-set ears; as well as smaller-than-normal skull and jaw.

Symptoms of the Extremeties

• Symptoms that present themselves in the extremities are also common in trisomy 13. Polydactyly, or the presence of extra fingers and/or toes as well as a single crease in the palm of the hand are commonplace in infants with Patau Syndrome.

Heart Symptoms

• Many infants with Patau Syndrome will suffer from congenital heart disease, such as placement of the heart on the right side of the body instead of the left; atrial septal defect, in which the chambers of the heart do not close completely; or ventricular septal defect, in which the right and left ventricles of the heart are not completely separated.

Other Bodily Symptoms

• Other common symptoms of trisomy 13 include lack of muscle tone, umbilical and/or inguinal hernia, severe mental retardation, seizures and undescended testicles.

Progression of Symptoms

• Because of the numerous and severe medical conditions present in infants with trisomy 13, most die within the first few days and weeks of life. According to the National Institutes of Health, only 5 to 10 percent of children with Patau Syndrome live past one year.