Synonyms: Distal del(16)(p11.2) | Distal monosomy 16p11.2
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age) structural brain malformations epilepsy vertebral anomalies and obesity are frequently associated.
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 2024
Newly diagnosed with
Distal 16p11.2 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.
Advocacy Organizations
16p Genetic Syndrome Foundation
To provide up to date, practical and digestible information and guidance for families to promote children and individuals with 16p11.2 deletion to reach their full potential while celebrating the joys of individual variation.
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.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.