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Trisomy 18

Alternative Names: Edwards syndrome Symptoms: 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 Signs and tests: Examination of the pregnant woman may show polyhydramnios (extra amniotic fluid). At the birth of the child, an unusually small placenta may be noted. Text Continues Below 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.

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