Mosaic trisomy 8
Synonyms: Mosaic trisomy chromosome 8 | Trisomy 8 mosaicism | Warkany syndrome
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body and clinically characterized by facial dysmorphism typically deep palmar and plantar creases mild intellectual deficit and joint urinary cardiac and skeletal anomalies.
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 April 2024
Newly diagnosed with
Mosaic trisomy 8?
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
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.