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Trisomy 4p

Disease definition

Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.

ORPHA:1738

  • Synonym(s):
    • Duplication 4p
    • Duplication of the short arm of chromosome 4
    • Trisomy of the short arm of chromosome 4
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q92.2
  • OMIM: -
  • UMLS: C2931570  C2931571
  • MeSH: C537643
  • GARD: 6091
  • MedDRA: -

Additional information

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