2q23.1 microduplication syndrome
Synonyms: Dup(2)(q23.1) | Trisomy 2q23.1
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2 primarily characterized by global developmental delay hypotonia autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows hypertelorism bilateral ptosis prominent nose wide mouth micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large broad first toe) have occasionally been reported.
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
2q23.1 microduplication syndrome?
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Advocacy Organizations
2q23.1/MAND Caregiver Support Group
The 2q23.1/MBD5 Disorders/MAND page is dedicated to improving the lives of individuals born with MBD5 differences (deletions, duplications, variants, or disruptions) and other anomalies encompassed within the genetic region of 2q23.1. We foster an engaged, knowledgeable, and welcoming worldwide community by providing access to support and resources, promoting advocacy, and funding research.
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.