Which condition is Edwards syndrome?

Which condition is Edwards syndrome?

• A. Edwards syndrome
• B. Down syndrome
• C. Patau syndrome
• D. Turner syndrome

Answer: (A)

Edwards syndrome is trisomy 18, a nondisjunction event that leaves three copies of chromosome 18. This leads to a severe pattern of congenital anomalies and growth restriction. Clinically, you’d expect clenched hands with overlapping fingers, rocker-bottom feet, micrognathia, low-set ears, and congenital heart defects. Neurodevelopment is profoundly affected, and survival beyond the first year is uncommon. This condition is one of the common trisomies by name, with Down syndrome being trisomy 21 and Patau syndrome being trisomy 13, while Turner syndrome is a monosomy X condition. Recognizing the combination of multiple defects and the specific hand and foot findings points to Edwards syndrome as the diagnosis.

Edwards syndrome is trisomy 18, a nondisjunction event that leaves three copies of chromosome 18. This leads to a severe pattern of congenital anomalies and growth restriction. Clinically, you’d expect clenched hands with overlapping fingers, rocker-bottom feet, micrognathia, low-set ears, and congenital heart defects. Neurodevelopment is profoundly affected, and survival beyond the first year is uncommon. This condition is one of the common trisomies by name, with Down syndrome being trisomy 21 and Patau syndrome being trisomy 13, while Turner syndrome is a monosomy X condition. Recognizing the combination of multiple defects and the specific hand and foot findings points to Edwards syndrome as the diagnosis.