Trisomy 18

Definition

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.

Also known as chromosome 18 duplication, complete trisomy 18 syndrome, E3 trisomy, Edwards syndrome, trisomy 18, trisomy type 18 — per MONDO

Also identified as

• DOID 1085 per MONDO
• ICD9 758.2 per MONDO
• MESH C580500 per MONDO
• NCIT C36626 per MONDO
• Orphanet 3380 per MONDO
• SCTID 51500006 per MONDO
• UMLS C4317091 per MONDO