Trisomy 18 : Symptoms, Diagnosis & Tests (Edwards syndrome)

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You are here : AllRefer.com > Health > Diseases & Conditions > Trisomy 18 : Symptoms, Diagnosis & Tests

Trisomy 18

Alternate Names : Edwards syndrome

Symptoms & Signs

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)

Diagnosis & 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:

Tests may also show kidney problems, including:

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Trisomy 18 : Definition
Trisomy 18 : Overview, Causes, & Risk Factors
Trisomy 18 : Symptoms & Signs
Trisomy 18 : Diagnosis & Tests
Trisomy 18 : Treatment
Trisomy 18 : Support Groups
Trisomy 18 : Prognosis (Expectations)
Trisomy 18 : Complications
Trisomy 18 : Calling Your Health Care Provider
Trisomy 18 : Prevention
Trisomy 18 : Pictures & Images
Syndactyly

Review Date : 8/11/2009
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.

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