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8p23.1 duplication syndrome

Disease definition

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).

ORPHA:251076

  • Synonym(s):
    • Dup(8)(p23.1p23.1)
    • Trisomy 8p23.1
  • Prevalence: 1-9 / 100 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10304
  • MedDRA: -

Additional information

Further information on this disease

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