Trisomy 13

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Polydactyly - an infant's hand

Syndactyly

Patau syndrome

• Mental retardation , severe
• Seizures
• Small head (microcephaly)
• Scalp defects (absent skin)
• Small eyes (microphthalmia)
• Cleft lip and/or 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
• Undescended testicle (cryptorchidism)
• Hypotonia
• Micrognathia
• Skeletal (limb) abnormalities

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)

Gastrointestinal x-rays or ultrasound may reveal abnormal rotation of the internal organs.

MRI or CT scans of the head may reveal a structural abnormality of the brain, called holoprosencephaly, where the 2 cerebral hemispheres are fused.

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

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.