8p23.1 duplication syndrome
Synonyms: Dup(8)(p23.1p23.1) | Trisomy 8p23.1
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 8 with a highly variable phenotype principally characterized by mild to moderate developmental delay intellectual disability mild facial dysmorphism (incl. prominent forehead arched eyebrows broad nasal bridge upturned nares cleft lip and/or palate) and congenital cardiac anomalies (e.g. atrioventricular septal defect). Other reported features include macrocephaly behavioral abnormalities (e.g. attention deficit disorder) seizures hypotonia and ocular and digital anomalies (poly/syndactyly).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
8p23.1 duplication syndrome?
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Project 8P Foundation
To empower a unified community for chromosome 8p heroes for a meaningful life today while accelerating treatments for tomorrow.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
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