8p23.1 duplication syndrome

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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 July 2024

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8p23.1 duplication syndrome?

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