Orphanet: Trisomy 8q

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Trisomy 8q

Disease definition

A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.


Classification level: Disorder
  • Synonym(s):
    • Duplication 8q
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q92.2
  • OMIM: -
  • UMLS: C0795829
  • MeSH: C538020
  • GARD: 5362
  • MedDRA: -

Detailed information

General public

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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