Edwards syndrome (patient information)

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What is Edwards syndrome?

Edwards syndrome, also known as Trisomy 18 is a genetic disorder in which a person has a third copy of genetic material from chromosome 18, instead of the usual two copies. The condition is associated with severe intellectual disability and abnormalities in many parts of the body. Individuals with trisomy 18 often have a low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; heart defects; and abnormalities of other organs. Due to the presence of several life-threatening medical problems, many infants with trisomy 18 die within their first month. Five percent to 10 percent of children with this condition live past their first year.

Trisomy 18 occurs in about 1 in 5,000 newborns. Approximately 80 percent of newborns affected by this disorder are female. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.

What are the symptoms of Edwards syndrome?

• Clenched hands
• Crossed legs (preferred position)
• Feet with a rounded bottom (rocker-bottom feet)
• Low birth weight
• Low-set ears
• Mental deficiency
• Small jaw (micrognathia)
• Underdeveloped fingernails
• Undescended testicle
• Unusual shaped chest (pectus carinatum)

Diagnosis

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

When to seek medical care

Call your health care provider and genetic counselor if you have had a child with Trisomy 18 and you plan to have another child. Genetic counseling can help families understand the condition, the risks of inheriting it, and how to care for the patient.

Treatment options

Treatment of children with Trisomy 18 is planned on a case-by-case basis. Which treatments are used depends on the patient's individual condition.

Where to find medical care for Edwards syndrome

Directions to Hospitals Treating Edwards syndrome

Prevention of Edwards syndrome

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 of having another child with Trisomy 18.

What to expect (Outlook/Prognosis)

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