Information about Trisomy 18

Trisomy 18 - All Information

• Overview
  
• Symptom
  
• Treatment
  
• Prevention
  
• All Information
  

Alternative Names



Edwards syndrome

Definition of Trisomy 18:



Trisomy 18 is a genetic disorder associated with the presence of extra material from chromosome 18.

Causes, incidence, and risk factors:



Trisomy 18 is a relatively common syndrome affecting approximately 1 out of 3,000 live births. It is three times more common in girls than boys. The syndrome is caused by the presence of an extra material from chromosome 18. The extra material interferes with normal development.


Symptoms:

<LI class="SymptomsLi adamLi">Clenched hands
<LI class="SymptomsLi adamLi">Crossed legs (preferred position)
<LI class="SymptomsLi adamLi">Heart disease (congenital)
<LI class="SymptomsLi adamLi">Hole, split, or cleft in the iris (coloboma)
<LI class="SymptomsLi adamLi">Kidney problems
<LI class="SymptomsLi adamLi">Low birth weight
<LI class="SymptomsLi adamLi">Low-set ears
<LI class="SymptomsLi adamLi">Mental deficiency
<LI class="SymptomsLi adamLi">Separation between the left and right side of the rectus abdominis muscle (diastasis recti)
<LI class="SymptomsLi adamLi">Small head (microcephaly)
<LI class="SymptomsLi adamLi">Small jaw (micrognathia)
<LI class="SymptomsLi adamLi">Umbilical hernia or inguinal hernia
<LI class="SymptomsLi adamLi">Underdeveloped fingernails
<LI class="SymptomsLi adamLi">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:

<LI class="Signs anLi adamLi">VSD (ventricular septal defect)
<LI class="Signs anLi adamLi">ASD (atrial septal defect)

• PDA (patent ductus arteriosus)
  

Tests may also show kidney problems, including:

<LI class="Signs anLi adamLi">Horseshoe kidney
<LI class="Signs anLi adamLi">Hydronephrosis

• Polycystic kidney
  

Treatment:



Medical management of children with Trisomy 18 is planned on a case-by-case basis and depends on the individual circumstances of the patient.

Support Groups:

<LI class="Support Li adamLi">Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) - www.trisomy.org

• Trisomy 18 Foundation - www.trisomy18.org
  

Expectations (prognosis):



Fifty percent of infants with this condition do not survive beyond the first week of life. Some children have survived to teenage years, but with serious medical and developmental problems.

Complications:



Complications depend on the specific defects and symptoms.

Calling your health care provider:



Call your health care provider and genetic counselor if you have had a child with Trisomy 18 and you plan to have another child.


Prevention:



Prenatal diagnosis of trisomy 18 is possible with an amniocentesis or chorionic villus sampling and chromosome studies on amniotic cells. Parents who have a child with translocational trisomy 18 and want additional children should have chromosome studies, because they are at increased risk to have another child with trisomy 18.











by abedheeh



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