Trisomy 18

rare

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.

Identifiers: MONDO:0018071 Orphanet:3380
Part of: Chromosome 18 disorder Syndromic disease Trisomy
Also known as: 18 trisomy · chromosome 18 duplication · chromosome 18 trisomy · complete trisomy 18 syndrome · E3 trisomy

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Complete trisomy 18	MONDO:0700032
Mosaic trisomy 18	MONDO:0700031

Rare disease

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