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Trisomy 18

• Overview
• Symptoms
• Treatment
• Prevention

Alternative Names:

Edwards syndrome

Symptoms:

• Clenched hands
• Crossed legs (preferred position)
• Heart disease (congenital)
• Hole, split, or cleft in the iris ( coloboma )
• Kidney problems
• Low birth weight
• Low-set ears
• Mental deficiency
• Separation between the left and right side of the rectus abdominis muscle ( diastasis recti )
• Small head ( microcephaly )
• Small jaw (micrognathia)
• Umbilical hernia or inguinal hernia
• Underdeveloped fingernails
• Undescended testicle
• Unusual shaped chest ( Pectus carinatum )

Signs and tests:

Examination of the pregnant woman may show an unusually large uterus and extra amniotic fluid . An unusually small placenta may be seen when the baby is born.

Physical examination of the infant may show unusual finger print patterns. X-rays may show a short breast bone. Chromosome studies show trisomy 18, partial trisomy, or translocation .

There are often signs of congenital heart disease, such as:

• VSD ( ventricular septal defect )
• ASD ( atrial septal defect )
• PDA ( patent ductus arteriosus )

Tests may also show kidney problems, including:

• Horseshoe kidney
• Hydronephrosis
• Polycystic kidney

• Review Date: 7/2/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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