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.
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
8p23.1 duplication syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.