Orphanet: Jacobsen syndrome

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Jacobsen syndrome

Disease definition

A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.


Classification level: Disorder
  • Synonym(s):
    • Del(11)(q23.3)
    • Del(11)(qter)
    • Distal deletion 11q
    • Distal monosomy 11q
    • Monosomy 11qter
    • Telomeric deletion 11q
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Antenatal
  • ICD-10: Q93.5
  • OMIM: 147791
  • UMLS: C0795841
  • MeSH: D054868
  • GARD: 307
  • MedDRA: -

Detailed information

Article for general public


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