Edwardsheilkenni

Edwardsheilkenni, or Edwards syndrome, is a chromosomal disorder caused by trisomy 18, in which an individual has three copies of chromosome 18 instead of the usual two. Most cases arise from nondisjunction during maternal meiosis, though mosaic trisomy or translocations involving chromosome 18 can also occur. The condition is estimated to occur in about 1 in 5,000 live births, though many conceptions with trisomy 18 end in miscarriage or stillbirth.

Common featuresinclude severe developmental delays and intellectual disability, growth retardation, and distinctive physical findings. Newborns often have a small head (microcephaly), facial differences such as a prominent occiput, low-set ears, and a small jaw (micrognathia). The hands may show clenched fists with overlapping fingers, and the feet can be rocker-bottom shaped. Congenital heart defects are frequent, as are kidney and other organ abnormalities. The clinical presentation is highly variable, but the overall prognosis is poor.

Diagnosis can follow prenatal screening and diagnostic testing or postnatal clinical assessment. Prenatal screening may reveal growth restriction or ultrasound-detected anomalies, while diagnostic tests such as chorionic villus sampling or amniocentesis with karyotyping or chromosomal microarray confirm trisomy 18. After birth, a chromosomal analysis confirms the diagnosis.

Management is multidisciplinary and supportive, focusing on the infant’s comfort and quality of life. Many affected infants die within the first year of life, though a minority may survive longer with intensive medical care. Ethical considerations often influence decisions about treatment and prognosis. The condition is named after John H. Edwards, who first described the syndrome in the 1960s.