Edward’s Syndrome – Causes and Symptoms of Edward’s syndrome
Edward’s syndrome also known as trisomy 18, a genetic disorder. This is a condition where the child is born with three copies of chromosome no. 18. The condition leads to death caused due to the malfunctioning of heart. The chances of getting this syndrome are higher in late pregnancy.
Causes of Edward’s Syndrome
Edward’s Syndrome is caused by spontaneous meiotic non-disjunction. This means that during meiosis, numerical errors may occur which result in making of an extra chromosome. This results in three copies of a chromosome instead of two. During fertilization, the sperm or egg containing an extra copy leads to this condition. The risk of this disorder increases with maternal age.
Symptoms of Edward’s Syndrome
Children suffering from Edward’s Syndrome show the following signs and symptoms:
- Small head, small mouth and small jaw
- Brain anomalies
- Mental retardation
- Difficulty in feeding and breathing
- Widely spaced eyes and upturned nose
- Cleft palate
- Kidney malformations
- Crossed legs
- Over lapping fingers
- Small pelvis
- Underdeveloped thumbs and nails
- Heart defects
- Abnormal ears
- Discomfort in bowels
- Short breastbone
- Low set ears
- Less body weight
- Abnormal jaws
- Recessed chin
- Extreme rigidity
- Vertebral problems
Who are affected with Edward’s Syndrome?
The incidence of the syndrome is 1 in 3000. Most of the infants die before their birth in the womb itself. This condition is more likely to be seen in children whose mother is conceiving the baby at older age i.e after a age of 32. There are possibilities, where younger mothers can also conceive babies with Edward’s Syndrome.
Diagnosis of Edward’s Syndrome
The syndrome can be diagnosed by going through mother’s serum screening tests. The tests include alpha feto-protein, unconjugated estriol, human chorionic gonadotropin detection. Fetal Ultrasound test also reveals the abnormalities. After birth, syndrome is diagnosed using peripheral blood of skin fibroblasts.