Clinical Image: A Case of Edwards’ Syndrome

Abstract

Edwards’ syndrome (trisomy 18) is a rare autosomal inherited disorder arising from the presence of an extra copy on chromosome 18. It is the second most common polymalformative genetic syndrome following Down syndrome. The most common characteristic features include dysmorphic gestalt, microcephaly, fixed flexion deformity of limbs with overlapping digits, rockerbottom feet, genitourinary and gastrointestinal abnomalities. About 90% of these children have underlying cardiac defects. Intellectual disability is almost always an accompanying feature. The presence and extent of associated anomalies govern the subsequent survival and quality of life. Only 5% of such cases survive beyond childhood.