Trisomy 18
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 September 2023.
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
The E.WE Foundation
The E.WE Foundation provides resources and support to families affected by Edwards Syndrome or Trisomy 18 and other rare diseases. We are dedicated to changing the medical perspective through advocacy, education, and public policy. The E.WE Foundation is committed to ensuring rare families have equitable access to quality healthcare, mental health, early interventions, and financial support.
The Chromosome 18 Registry & Research Society
To help those with chromosome 18 conditions overcome the obstacles they face so they may live healthy and productive lives.
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.
Support Organization for Trisomy 18,13 and Related disorders
To support all families through their Trisomy journey
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.