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
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2q23.1 microduplication syndrome?
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Advocacy Organizations
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.
Clinical Trials
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