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 May 2026
Newly diagnosed with
2q23.1 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
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.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.