What are the Symptoms of Trisomy 13?

What are the Symptoms of Trisomy 13?

Trisomy 13, also known as Patau syndrome, is a genetic disorder in which a person has three copies of chromosome 13 instead of the usual two. This condition can cause a range of severe and life-limiting physical and intellectual disabilities. Common symptoms and characteristics of trisomy 13 include:

  1. Cleft Lip and/or Palate: A split or opening in the lip and/or roof of the mouth, which can vary in severity.
  2. Congenital Heart Defects: Structural abnormalities in the heart that are present from birth, which can be severe and may require surgical intervention.
  3. Central Nervous System Abnormalities:
    • Holoprosencephaly: A condition where the brain does not divide into distinct hemispheres.
    • Microcephaly: Abnormally small head size and brain.
  4. Eye Abnormalities:
    • Cataracts: Clouding of the lens of the eye, leading to impaired vision.
    • Microphthalmia: Abnormally small eyes.
  5. Polydactyly: Having extra fingers or toes (more than the usual number).
  6. Scoliosis: Abnormal curvature of the spine.
  7. Hernias: Abdominal hernias, where organs protrude through the abdominal wall.
  8. Seizures: Uncontrolled electrical activity in the brain leading to seizures.
  9. Intellectual Disability: Intellectual and developmental delays, ranging from mild to severe.
  10. Respiratory Problems: Breathing difficulties due to underdeveloped lungs or other respiratory issues.
  11. Feeding and Digestive Problems:
    • Difficulty feeding, swallowing, or digesting food.
    • Gastrointestinal malformations or abnormalities.
  12. Kidney Abnormalities: Structural or functional abnormalities of the kidneys.
  13. Distinct Facial Features:
    • Low-set ears.
    • Small eyes with close-set pupils (hypotelorism).
    • A small head with a sloping forehead.
    • Flat nasal bridge and a prominent nose.
    • Abnormalities of the ears and lips.

Trisomy 13 is a severe genetic condition, and affected individuals typically have a shortened life expectancy. Many babies with trisomy 13 do not survive past the first year of life, and those who do may have significant challenges and require extensive medical care and support. It’s important for families to work closely with healthcare professionals and support groups to navigate the challenges associated with this condition.

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