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Genetic and Rare Diseases Information Center (GARD)

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Kuskokwim disease

Other Names for this Disease
  • Arthrogryposis-like disorder
  • Arthrogryposis-like syndrome
  • Kuskokwim syndrome
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Your Question

I am unable to find current literature about Kuskokwim syndrome. What is it, how is it presented and treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Kuskokwim disease?

Kuskokwim disease is a congenital (present at birth) 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.[1]
Last updated: 8/7/2013

What are the signs and symptoms of Kuskokwim disease?

The range and and severity of signs and symptoms in individuals with Kuskokwim disease can vary, even among siblings. Affected individuals usually have congenital contractures, especially of lower extremities, which progress during childhood and persist for the lifetime of the individual. However, not all individuals with the condition have contractures at birth. The severity of contractures can be very asymmetrical in any given individual. The knees and elbows are often affected, and skeletal abnormalities of the spine, pelvis, and feet also commonly occur. Muscle atrophy of limbs with contractures and displacement of kneecaps (patellae) have also been reported.

Milder skeletal features are common. Vertebral features may include spondylolisthesis, mild to moderate scoliosis, and/or lordosis. Many affected individuals have had several low-energy fractures. Other skeletal abnormalities that have been reported include bunions (hallux valgus), "flat feet" (plano valgus feet), and clubfoot (talipes equinovarus). Development and arrangement of the teeth (dentition) are normal.

Although some individuals with full bilateral contractures of the knees can move about by “duck walking” (sitting with buttocks on their heels) or by “knee walking” (moving on their knees with their lower legs drawn up behind them to their buttocks), most affected individuals are treated with leg braces and/or surgery in childhood and can walk upright.[1]
Last updated: 8/8/2013

How might Kuskokwim disease be treated?

Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ambulation (moving about) and improving upper-limb function for self-care.[2] Many individuals with Kuskokwim disease are treated with leg braces and/or surgery and eventually are able to walk upright.[1]
Last updated: 8/8/2013

Where can I find current literature on Kuskokwim disease?

You can find relevant articles on Kuskokwim disease through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "Kuskokwim" as your search term should help you locate articles. Use the filters on the left sidebar to narrow your search results. See a sample PubMed search for Kuskokwim disease here.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link: You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Last updated: 8/8/2013

  • Barnes AM et al. Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations. Hum Mutat. May 25, 2013; [Epub ahead of print]:
  • Harold Chen. Arthrogryposis Treatment and Management. Medscape Reference. February 15, 2013; Accessed 8/8/2013.