Trisomy 18 Syndrome Pictures, Santorum’s Daughter Bella Santorum Helps Bring Attention
While Trisomy 21 is generally known by the public as Down’s Syndrome, there is another condition called trisomy 18 that has gained attention in recent weeks.
“Trisomy 18 is a genetic disorder in which a person has a third copy of material from chromosome 18, instead of the usual two copies.”
Beautiful little Bella Santorum, President Rick Santorum’s daughter, has trisomy 18. Issues with her health have brought trisomy 18 to the public eye, as Rick Santorum had to miss some campaigning days to be with his daughter. Though the prognosis of trisomy 18 syndrome still has half of all infants not surviving, the number of children living to teenage years has shown improvement.
Causes, incidence, and risk factors
Trisomy 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)
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
Treatment
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
Expectations (prognosis)
Half 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.
Complications
Complications depend on the specific defects and symptoms.
-NCIH.gov
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Author: Rachel Aschner-Barsky
Former circuit gymnast and now retired from the sport, I'm now embarking on a career in my field of college study: journalism. These guys at ChristWire have hired me and I do not plan to back down for my "crazy liberal" views. Join me and let's bring the biased 'conservatives' down a notch or two.
