8q21.11 microdeletion syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

8q21.11 microdeletion syndrome

Synonyms: Del(8)(q21.11) | Deletion 8q21.11 | Monosomy 8q21.11

8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability facial dysmorphism comprising a round face ptosis short philtrum Cupid’s bow and prominent low-set ears nasal speech and mild finger and toe 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 September 2023.

Newly diagnosed with
8q21.11 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.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.