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Edward syndrome: Treatment, symptoms, advice and help

About Edward syndrome

Edward syndrome also called ‘Trisomy 18’ is a serious genetic disorder characterised by physical and mental abnormalities in the individual. The genetic disorder occurs either due to deletion or addition of chromosome material. Edward syndrome results from extra material in chromosome number 18. Edward syndrome is an incurable disease with a high mortality rate.

Edward syndrome: Incidence, age and sex

Edward syndrome is a rare genetic disorder and is present since birth. It is 3 times more common among females as compared with males.

Signs and symptoms of Edward syndrome: Diagnosis

The clinical spectrum of Edward syndrome is quite variable and may differ from person to person. It is characterised by premature birth and low birth weight. The physical abnormalities of face are typical and constitute small head and haw with low set ears. The individuals with Edward syndrome have a typical posture with clenched hands and crossed legs. Other physical malformations include deformed hands, feet with rounded bottom, pigeon shaped chest and webbed neck. Retardation of mental growth is also seen.

Several investigations like amniocentesis and chorionic villus sampling are done during pregnancy to diagnose such genetic disorders. Edward syndrome can be suspected shortly after birth by typical physical aberrations.

Causes and prevention of Edward syndrome

Edward syndrome is a disorder resulting from duplication of a portion of chromosome number 18. It generally occurs as a random process during formation of egg or sperm. However, the chances of occurrence of Edward syndrome may increase with increasing maternal age.

Edward syndrome: Complications

The babies affected with Edward syndrome usually do not survive after a few years. Life threatening complications afflicting the vital organs like heart and kidney result in the reduced life span. Congenital heart diseases like atrial septal defect, ventricular septal defect or patent ductus, arteriosus may be encountered in majority of affected children. The kidneys may exhibit hydronephrosis or polycystic disease resulting in their failure to function normally.

Edward syndrome: Treatment

Unfortunately Edward syndrome has no cure. Excellent supportive care is an essential part of management of affected individuals. The survival rate depends upon the mental and physical capabilities of the affected individual. However, it is rare to see an individual with Edward syndrome proceed to adulthood. Most of the affected children usually succumb to complications before the first year of life.

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