Jacobsen syndrome
| Jacobsen syndrome | |
|---|---|
 Girl with Jacobsen syndrome | |
| Classification and external resources | |
| Specialty | Medical genetics |
| ICD-10 | Q93.5 |
| ICD-9-CM | 758.3 |
| OMIM | 147791 |
| DiseasesDB | 31957 |
| MeSH | D054868 |
| Orphanet | 2308 |
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
- 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.
References
- ↑ 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
- European Chromosome 11 Network - Support group for patients with chromosome 11 disorders, their families and relatives
- 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
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