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Trisomy 18

MONDO:0018071

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: E3 trisomy, Edwards syndrome, chromosome 18 duplication, complete trisomy 18 syndrome, trisomy 18, trisomy type 18, 18 trisomy, chromosome 18 trisomy

4 clinical trials for this condition and its sub-types.

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Sub-types

Complete trisomy 18 (0) Mosaic trisomy 18 (0)

Broader categories

Disease (618) Syndromic disease (24) Human disease (14) Aneuploidy (12) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Chromosome 18 disorder (1) Autosomal anomaly (0) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 2 Not yet finished but already full! 1 Completed 1
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  • 10,000 genomes scoured for clues to rare brain diseases

    Knowledge-focused ENROLLING_BY_INVITATION

    This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.

    Sponsor: Karolinska Institutet • Aim: Knowledge-focused

    Last updated Jun 26, 2026 13:56 UTC

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