Patau Syndrome, also known as Trisomy 13, is a genetic disorder in which all or part of the genetic material from the 13th chromosome is copied onto other chromosomes. This extra chromosome causes a plethora of health problems, many of which are severe and life-threatening.

For those with Patau Syndrome, only 5-10% live past their first year. It occurs in 1:16,000 births. Approximately 1% of all miscarriages are due to Patau Syndrome. The incidence of having a child with this syndrome increases with maternal age.

Risk Factors

As Patau Syndrome typically is a random occurrence, there are not many risk factors. Again, as maternal age increases, so does the risk of this disorder. It is rarely inherited (Translocation Trisomy 13). The cause of Patau Syndrome is unknown.

Symptoms

Symptoms of Patau Syndrome vary from person to person, and range in severity, but generally include:

  • Heart defects (80%)
  • Brain abnormalities
  • Spinal cord abnormalities
  • Very small/close-set/poorly developed eyes
  • Extra fingers or toes
  • Cleft lip
  • Cleft palate
  • Decreased muscle tone (hypotonia)
  • Developmental delays
  • Small size
  • Poor feeder
  • Microcephaly
  • Wide soft spots (fontanelles)
  • Small, low-set ears
  • Short neck
  • Hemangiomas
  • Folds of skin in corners of eyes
  • Sparse/absent eyebrows
  • Abnormal brain development
  • Midline facial defects
  • Apnea
  • Seizures
  • Hydrocephalus
  • Kidney defects
  • Abnormal of genitalia
  • Simian crease across hands and feet

Diagnosis

Similar to Down Syndrome, there are several ways to obtain a definitive diagnosis of Patau Syndrome. A preliminary diagnosis can be made based on the physical characteristics, but a genetic test, done via amniocentesis before birth, or testing after birth is used to confirm the diagnosis. A non-invasive ultrasound can also be used to visualize changes during pregnancy. Other tests include EKG, x-rays, and other testing be specific to the individual’s symptoms.

Treatment

Treatments for Patau Syndrome are typically palliative. Depending on the severity of symptoms, surgery may be performed to correct certain abnormalities.

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Resources:
Marchofdimes.org
nationaldb.org
trisomy.org
thearc.org
rarechromo.org
ghr.nlm.nih.gov
rarediseases.org
letthemhear.org

The information in this article is to be used for informational purposes only. It is NOT to be used in place of, or in conjunction with, professional medical advice. Anyone with questions regarding this or other medical issues discussed on this site must consult their physician for further information and treatment.

   
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