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Edwards syndrome

 

What is Edwards syndrome?
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18. Most cases of Trisomy 18 are not inherited and occur sporadically (by chance).

Signs and symptoms
Most likely physical symptoms include decreased muscle tone (hypotonia), low-set ears, overlapping fingers, small physical size, as well as intellectual disabilities or dysfunction of internal organs. Sever symptoms may include congenital heart and kidney disease, breathing abnormalities, abdominal wall issues, hernia and scoliosis.

Children with Edwards syndrome
Children diagnosed with Trisomy 18 have a low birth weight, multiple birth defects and defining physical characteristics.

Diagnosis of Edwards syndrome
Diagnosis of Edwards syndrome can already be performed before birth. Treatment for Edwards syndrome is unique for each child, based on the severity of their diagnosis.

Sources and useful links: 
Medline Plus 
Cleveland Clinic 
GARD – Genetic and Rare Diseases Information Center

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