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Polydactyly - an infant's hand Syndactyly

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Trisomy 13

Alternative Names: Patau syndrome Symptoms: 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 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) Text Continues Below 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.

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