How Do You Spell EDWARDS SYNDROME?

Pronunciation: [ˈɛdwədz sˈɪndɹə͡ʊm] (IPA)

Edwards Syndrome is a genetic disorder caused by an extra copy of the chromosome 18. The spelling of this condition is pronounced as "ˈɛdwərdz sɪndroʊm." The first syllable "ed" is pronounced with the short "e" sound like in "bed." The "w" and "d" sounds are clearly heard in "Edward." The last syllable "sindrome" is pronounced with the stress on the first syllable, and the "o" is pronounced as "oh." The "e" at the end is silent.

Meaning and Definition
Etymology
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EDWARDS SYNDROME Meaning and Definition

  1. Edwards syndrome, also known as Trisomy 18, is a rare genetic disorder that is caused by the presence of an extra copy of chromosome 18 in every cell of an individual's body. This condition occurs spontaneously during the formation of reproductive cells or early in embryonic development, leading to an incorrect distribution of chromosomes.

    Individuals with Edwards syndrome may experience various physical and developmental abnormalities due to the presence of this extra chromosome. Some common characteristics include small head and jaw, prominent forehead, low-set ears, clenched fists with overlapping fingers, and a variety of congenital heart defects. Other complications can include reduced muscle tone, feeding difficulties, delayed growth and development, kidney abnormalities, gastrointestinal issues, respiratory problems, and cognitive impairment.

    Edwards syndrome is a chromosomal disorder that affects both genders equally and occurs in approximately 1 in 5,000 live births, although the actual prevalence may be higher as many affected pregnancies end in miscarriage or stillbirth. The condition is associated with a high mortality rate, with only a small percentage of affected individuals surviving beyond the first year of life. The severity of symptoms can vary among affected individuals, with some individuals exhibiting milder symptoms and others experiencing more severe complications.

    Diagnosis of Edwards syndrome can be made through prenatal testing such as amniocentesis or chorionic villus sampling, which analyze the fetal cells for chromosomal abnormalities. Treatment for individuals with this condition primarily focuses on managing the symptoms and providing supportive care, including surgeries to address congenital heart defects and other medical interventions as needed.

Etymology of EDWARDS SYNDROME

The term "Edwards syndrome" is named after John Hilton Edwards, an English geneticist who first described the condition in 1960. Also known as trisomy 18, Edwards syndrome is a chromosomal disorder characterized by the presence of an extra copy of chromosome 18. It is named after Dr. Edwards because he was one of the first researchers to identify and document the unique features and genetic abnormalities associated with this condition.