National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Kuskokwim disease


Other Names:
Arthrogryposis-like disorder; Kuskokwim syndrome; Arthrogryposis-like syndrome; Arthrogryposis-like disorder; Kuskokwim syndrome; Arthrogryposis-like syndrome; Bruck syndrome-1 See More
Categories:
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
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the patella
Absent/small kneecap
Absent/underdeveloped kneecap
[ more ] 		0006498
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
30%-79% of people have these symptoms
Talipes 0001883
5%-29% of people have these symptoms
Abnormal form of the vertebral bodies 0003312
Abnormality of the clavicle
Abnormal collarbone
0000889
Aplasia/Hypoplasia of the radius 0006501
Melanocytic nevus
Beauty mark
0000995
Reduced tendon reflexes 0001315
Scoliosis 0002650
Percent of people who have these symptoms is not available through HPO
Ankle flexion contracture 0006466
Autosomal recessive inheritance 0000007
Coxa vara 0002812
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] 		0002987
Hip contracture 0003273
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ] 		0002659
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Knee flexion contracture 0006380
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Osteoporosis 0000939
Pectus carinatum
Pigeon chest
0000768
Platyspondyly
Flattened vertebrae
0000926
Protrusio acetabuli 0003179
Pterygium 0001059
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Vertebral wedging
Wedge-shaped vertebrae
0008422
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Last updated: 7/1/2020
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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

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


  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]:
  2. Harold Chen. Arthrogryposis Treatment and Management. Medscape Reference. February 15, 2013; http://emedicine.medscape.com/article/941917-treatment. Accessed 8/8/2013.