Other Names for this Disease
- Arthrogryposis-like disorder
- Kuskokwim syndrome
- Arthrogryposis-like syndrome
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contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by mutations in the FKBP10 gene and is inherited in an autosomal recessive manner.Kuskokwim disease is a congenital (present at birth)
Last updated: 8/7/2013
- Genetics Home Reference (GHR) contains information on Kuskokwim disease. This website is maintained by the National Library of Medicine.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Kuskokwim disease. Click on the link to view a sample search on this topic.