patáu

Patau, also known as Trisomy 13, is a rare and severe genetic disorder caused by the presence of an extra copy of chromosome 13. This extra genetic material leads to significant developmental abnormalities affecting multiple organ systems. The condition occurs sporadically, meaning it is not typically inherited, and is more common in infants born to mothers of advanced maternal age.

The physical characteristics of Patau syndrome can vary but often include intellectual disability, microcephaly (a smaller than normal head), and various facial malformations such as a cleft lip and palate, and a sloping forehead. Many infants with Patau syndrome are born with serious heart defects, kidney abnormalities, and extra fingers or toes. Neurological issues, including seizures, are also common.

The prognosis for Patau syndrome is generally poor. The majority of affected infants are either stillborn or die within the first few weeks or months of life due to the severity of their medical complications. While some individuals may survive longer, their quality of life is significantly impacted by the profound intellectual and physical challenges associated with the condition. Diagnosis is typically made through prenatal screening or after birth via genetic testing, such as karyotyping. There is no cure for Patau syndrome; treatment focuses on supportive care to manage symptoms and improve comfort for the infant and family.