Patau syndrome, also known as trisomy 13, is a serious genetic disorder characterized by the presence of an extra copy of chromosome 13 in some or all of the body's cells. This extra genetic material disrupts normal development, leading to a range of severe health problems.
Understanding Patau Syndrome
Here's a breakdown of how Patau syndrome presents:
-
Genetic Basis: The root cause is trisomy 13, where an individual has three copies of chromosome 13 instead of the usual two.
-
Physical Characteristics: Individuals with Patau syndrome often have:
- Cleft lip and/or cleft palate: A split in the upper lip and/or the roof of the mouth.
- Brain Abnormalities: Severe structural defects in the brain.
- Eye Defects: Anophthalmia (absence of one or both eyes) or microphthalmia (abnormally small eyes).
- Limb Abnormalities: Polydactyly (extra fingers or toes), and sometimes trigger thumbs.
- Skin Abnormalities: Capillary hemangiomata (raised, red birthmarks).
- Simian Crease: A single crease across the palm of the hand.
-
Health Complications: Patau syndrome is associated with numerous health problems, including:
- Heart defects.
- Kidney abnormalities.
- Severe intellectual disability.
- Seizures.
- Feeding difficulties.
-
Prognosis: Sadly, Patau syndrome carries a very poor prognosis. Most babies with this condition do not survive beyond the first few weeks or months of life. Only a small percentage live beyond their first birthday.
-
Diagnosis: Patau syndrome can be diagnosed during pregnancy through prenatal screening tests or after birth through a physical examination and genetic testing (karyotype).
In summary, Patau syndrome is a severe and complex genetic disorder with significant health implications and a limited life expectancy. It results from an extra copy of chromosome 13 and causes a wide range of physical and developmental abnormalities.
