Trisomy 13

Alternative names:

Patau syndrome

Symptoms:

• mental retardation, severe
• seizures
• small head (microcephaly)
• scalp defects (absent skin)
• small eyes (microphthalmia)
• cleft lip
• cleft palate
• eyes close set (hypotelorism); eyes may actually fuse together into one
• iris defects (coloboma)
• pinna abnormalities and low set ears
• Simian crease
• extra digits (polydactyly)
• hernias: umbilical hernia, inguinal hernia
• cryptorchidism, male
• hypotonia
• micrognathia
• motormental retardation
• skeletal (limb) abnormalities

Signs and tests:

The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease:

• ventricular septal defect (VSD)
• atrial septal defect (ASD)
• patent ductus arteriosus (PDA)
• abnormal placement of the heart (dextroversion--the heart is placed toward the right side of the chest instead of the left)

Chromosome studies show trisomy 13, partial trisomy, trisomy 13 mosaic, or translocation.