2q23.1 microduplication syndrome

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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 February 2024

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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.

Clinical Trials

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