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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
8p23.1 microdeletion syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Project 8P Foundation
To empower a unified community for chromosome 8p heroes for a meaningful life today while accelerating treatments for tomorrow.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
For a list of clinical trials in this disease area, please click here.