Overview
Edwards' syndrome , also known as trisomy 18, is a genetic disorder caused by an extra copy of chromosome 18. It leads to severe developmental and health problems in infants.
Symptoms
Low birth weight and small size Heart defects Clenched fists with overlapping fingers Developmental delays and intellectual disability Facial abnormalities such as small jaw or low-set ears
Causes
Extra copy of chromosome 18 due to nondisjunction during cell division Advanced maternal age increases risk
Diagnosis
Prenatal screening with ultrasound and blood tests Amniocentesis or chorionic villus sampling for genetic confirmation Postnatal physical examination and genetic testing
Treatment
No cure; management focuses on symptom relief and supportive care Medical interventions for heart or organ defects Physical and occupational therapy for developmental support
Complications
Severe developmental delays Life-threatening organ defects High infant mortality within the first year
Prevention
Genetic counseling for at-risk families Screening during pregnancy