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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.
Alternative NamesEdwards syndrome
Causes, incidence, and risk factorsTrisomy 18 is a relatively common syndrome. It is three times more common in girls than boys. The syndrome is caused by the presence of extra material from chromosome 18. The extra material interferes with normal development.
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)
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
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.
Support Groups- Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) - www.trisomy.org
- Trisomy 18 Foundation - www.trisomy18.org
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.
ComplicationsComplications depend on the specific defects and symptoms.
Calling your health care providerCall 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.
PreventionPrenatal diagnosis of trisomy 18 is possible with an amniocentesis or chorionic villus samplingand 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 else can I help you with?
Can trisomy 18 be cured?
There is no cure for trisomy 18
Is trisomy 18 sex-linked?
yes
Can Trisomy 18 be detected?
Yes, prenatal screening tests like ultrasound and blood tests can detect the presence of Trisomy 18 in a fetus. Additionally, diagnostic tests such as amniocentesis or chorionic villus sampling can confirm the diagnosis.
Which congenital heart defects occur in trisomy 13 trisomy 18 and down syndrome?
Congenital heart defects are common in trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and Down syndrome (trisomy 21). In trisomy 13, defects often include ventricular septal defects and atrioventricular canal defects. Trisomy 18 is frequently associated with ventricular septal defects and patent ductus arteriosus. Down syndrome typically presents with atrioventricular septal defects and ventricular septal defects as the most prevalent heart abnormalities.
What is another name for trisomy 18?
Edward's syndrome
What is Trisomy 18 syndrome also called?
Edwards' syndrome
What is Edwards' syndrome also called?
Trisomy 18 syndrome
How often does trisomy 18 syndrome happen?
Trisomy 18 syndrome occurs in about 1 in 5,000 live births. It is a chromosomal disorder where there is an extra copy of chromosome 18 present in the cells. This condition can lead to intellectual disabilities, physical abnormalities, and often results in a shortened lifespan.
How many babies are born with trisomy 18 every day in the US?
Trisomy 18, also known as Edwards syndrome, occurs in approximately 1 in 5,000 live births. In the United States, this translates to about 20 babies born with trisomy 18 each year, which averages to roughly 1 to 2 babies per day. However, many pregnancies with trisomy 18 result in miscarriage or stillbirth, so the number of live births is significantly lower.
Is trisomy 18 fatal?
Trisomy 18, also known as Edwards syndrome, is a genetic condition caused by an extra chromosome 18. It results in severe developmental delays and multiple physical abnormalities that often lead to serious health complications, with many affected individuals not surviving beyond the first year of life. The prognosis for individuals with trisomy 18 is generally poor, with most cases resulting in early mortality.
Are there cases of trisomy besides down syndrome that can survive?
My son is 3 years old with full trisomy 18. I have some videos on youtube that I've put together with lots of trisomy families I've found on facebook. My awareness video is of over 100 surviving kids of trisomy 13 and 18. Just go to youtube and search 'trisomy awareness' or trisomy advocacy' and you'll find them. There is also a website called 'livingwithtrisomy13.com' that has stories of over 100 trisomy 13 kids on it. I, also, personally know of two kids with trisomy 8. So, yes, there are cases of kids surviving trisomies other than trisomy 21 (Down Syndrome). :) Alisha Hauber
Is triosmy lethal or non lethal?
There are many Trisomy 18 and Trisomy 13 Living Survivors. Carrying to term, each child charts their own course, when treated to their unique medical issues.For more information you can go to SOFT Support Organization for Trisomy 18, 13 and Related Disorders. There is also the TRIsoMY Favorite Things blog in the related links below. Therese Ann, Mom to Natalia, living with full trisomy 13. Celebrating 13th Birthday in 2013.
