Saturday, February, 11, 2012

Trisomy 18

Table of Contents

Alternative Names

Edwards syndrome


Symptoms
  • Clenched hands
  • Crossed legs (preferred position)
  • Feet with a rounded bottom (rocker-bottom feet)
  • Low birth weight
  • Low-set ears
  • Mental deficiency
  • Small head (microcephaly)
  • Small jaw (micrognathia)
  • 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 fingerprint patterns. X-rays may show a short breast bone. Chromosome studies show trisomy 18, partial trisomy, or translocation.

Other signs include:

  • Hole, split, or cleft in the iris (coloboma)
  • Separation between the left and right side of the rectus abdominis muscle (diastasis recti)
  • Umbilical hernia or inguinal hernia

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

  • Atrial septal defect (ASD)
  • Patent ductus arteriosus (PDA)
  • Ventricular septal defect (VSD)

Tests may also show kidney problems, including:

  • Horseshoe kidney
  • Hydronephrosis
  • Polycystic kidney

Review Date: 08/11/2009
Reviewed By: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)