Synonyms: Chromosome 18 duplication | Edwards syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version January 2026
Newly diagnosed with
Trisomy 18?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Help Hope Live
Help Hope Live believes a medical crisis shouldn’t become a financial crisis. Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
Support Organization for Trisomy 18,13 and Related disorders
To support all families through their Trisomy journey
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chromosome 18 Registry & Research Society
To help individuals with chromosome 18 conditions overcome the obstacles they face so they may lead health and productive lives.
The E.WE Foundation
OUR MISSION: To provide resources and support to families impacted by Trisomy 18 (Edwards Syndrome) and other rare diseases, while changing the medical perspective through advocacy, education, and public policy
Tracking Rare Incidence Syndromes (TRIS) project
The Tracking Rare Incidence Syndromes (TRIS) project seeks to increase the knowledge base on rare incidence trisomy conditions, and to make this information available to families and interested educational, medical and therapeutic professionals. Related outcomes will be the development of appropriate services, advance treatment options, and supports.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.