Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Kuskokwim disease


Other Names for this Disease

  • Arthrogryposis-like disorder
  • Arthrogryposis-like syndrome
  • Kuskokwim syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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

References

  1. 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]:
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Kuskokwim disease have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • 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.
Other Names for this Disease
  • Arthrogryposis-like disorder
  • Arthrogryposis-like syndrome
  • Kuskokwim syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.