8p23.1 microdeletion syndrome
Synonyms: Del(8)(p23.1) | Monosomy 8p23.1
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight postnatal growth deficiency mild intellectual deficit hyperactivity craniofacial abnormalities and congenital heart defects.
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
8p23.1 microdeletion syndrome?
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Advocacy Organizations
Project 8P Foundation
To empower a unified community for chromosome 8p heroes for a meaningful life today while accelerating treatments for tomorrow.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.