7p22.1 microduplication syndrome
Synonyms: Dup(7)(p22.1) | Trisomy 7p22.1
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial interstitial microduplication of the short arm of chromosome 7 characterized by intellectual disability psychomotor and speech delays craniofacial dysmorphism (including macrocephaly frontal bossing hypertelorism abnormally slanted palpebral fissures anteverted nares low-set ears microretrognathia) and cryptorchidia. Cardiac (e.g. patent foramen ovale and atrial septal defect) as well as renal skeletal and ocular abnormalities may also be 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 April 2024
Newly diagnosed with
7p22.1 microduplication 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
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.