Jacobsen syndrome

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Jacobsen syndrome
Classification and external resources
Jacobsen syndrome patient.JPG
Girl with Jacobsen syndrome
ICD-10 Q93.5
ICD-9 758.3
OMIM 147791
DiseasesDB 31957

Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome was first identified by Danish physician Petra Jacobsen,[1] and is believed to occur in approximately 1 out of every 100,000 births.

Possible characteristics[edit]

  • Heart defects
  • Mild to severe intellectual disabilities
  • Low-platelets (thrombocytopenia)
  • Facial/skeletal (dysplasia)
  • Wide-set eyes caused by trigonocephaly
  • Folding of the skin near the eye (epicanthus)
  • Short, upturned nose (anteverted nostrils)
  • Thin lips that curve inward
  • Displaced receding chin (retrognathia)
  • Low-set, misshapen ears
  • Permanent upward curvature of the pinkie and ring fingers (camptodactyly)
  • Large great toes/Hammer toes


In addition, patients tend to be shorter than average and have poor psychomotor skills.

The majority of Jacobsen syndrome cases are not familial in nature, resulting from a spontaneous mutation occurring in a single parental gamete. However, some instances of familial disease resulting from local chromosome fragility or an unbalanced translocation have been described.[citation needed]

References[edit]

  1. ^ Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J (1973). "An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study". Hum. Hered. 23 (6): 568–85. doi:10.1159/000152624. PMID 4134631. 

Sources[edit]

  • 11Q Research & Resource - U.S.-based support group for patients with chromosome 11 disorders, their families and relatives
  • Orthoseek - Specializes in pediatric orthopedics and pediatric sports medicine