Edwards syndrome

A severe genetic disorder that results in malformations of the brain, kidney, heart, hands and feet. It is caused by an extra copy of chromosome 18 and those people who have it usually die within six months.


A congenital condition stemming from a chromosomal abnormality that results from the existence of three copies (trisomy) of chromosome 18. Infants with Edwards’ syndrome have severe mental retardation and often numerous defects, such as cleft lip and palate, syndactyly, club foot, and malformation of internal organs. Most die within a few months.


Edwards’ syndrome, also known as trisomy 18, is a genetic condition characterized by the presence of an extra copy of chromosome 18. This syndrome has a higher occurrence in girls, affecting approximately three girls for every boy.


Features of Edwards’ syndrome encompass a low birth weight, profound learning difficulties, misshapen and low-set ears, a small jaw, hand malformations, clouding in the eye’s cornea, congenital heart disease, hernias, ventricular septal defect (a condition marked by a hole between the heart’s lower chambers), and anomalies in the kidneys.


Around half of the infants born with Edwards’ syndrome do not live past their first week. It is rare for such infants to survive beyond a year. Individuals with a family history of Edwards’ syndrome should contemplate seeking genetic counseling before deciding to have children.


 


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