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Trisomy 9p

Disease definition

Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.

ORPHA:236

  • Synonym(s):
    • Duplication 9p
    • Duplication of the short arm of chromosome 9
    • Trisomy of the short arm of chromosome 9
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q92.2
  • OMIM: -
  • UMLS: C0265428
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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