Trisomy 18

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Syndactyly

Edwards syndrome

• Unusually large uterus during pregnancy
• Low birth weight infant
• Mental deficiency
• Low-set ears
• Small jaw (micrognathia)
• Clenched hands
• Hypoplastic (underdeveloped) fingernails
• Umbilical hernia or inguinal hernia
• Diastasis recti
• Cryptorchidism
• Crossed legs (preferred position)
• Congenital heart disease
  • VSD (ventricular septal defect )
  • ASD (atrial septal defect )
  • PDA (patent ductus arteriosus )
• Congenital kidney abnormalities
  • Horseshoe kidney
  • Hydronephrosis
  • Polycystic kidney
• Coloboma of iris
• Microcephaly
• Pectus carinatum

Examination of the pregnant woman may show polyhydramnios (extra amniotic fluid). At the birth of the child, an unusually small placenta may be noted.

Physical examination may show an excess of arched type finger print patterns. X-rays may reveal a short breast bone (sternum). Chromosome studies show trisomy 18, partial trisomy, 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.