6p22 microdeletion syndrome
Synonyms: Del(6)(p22) | Monosomy 6p22
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay facial dysmorphism short neck and diverse 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 April 2024
Newly diagnosed with
6p22 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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.