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Disease Profile
Kuskokwim disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Arthrogryposis-like disorder; Kuskokwim syndrome; Arthrogryposis-like syndrome;
Categories
Congenital and Genetic Diseases
Summary
Kuskokwim disease is a
Symptoms
Milder skeletal features are common. Vertebral features may include spondylolisthesis, mild to moderate
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]
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.
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 clavicle morphology |
Abnormal collarbone
|
0000889 |
Abnormal form of the vertebral bodies | 0003312 | |
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 | |
0000007 | ||
Coxa vara | 0002812 | |
Elbow flexion contracture |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Hip contracture | 0003273 | |
Increased |
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 |
0000939 | ||
Pectus carinatum |
Pigeon chest
|
0000768 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Protrusio acetabuli | 0003179 | |
Pterygium | 0001059 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Vertebral wedging |
Wedge-shaped vertebrae
|
0008422 |
Treatment
Learn more
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
- Genetics Home Reference (GHR) contains information on Kuskokwim disease. This website is maintained by the National Library of Medicine.
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.
References
- 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; https://emedicine.medscape.com/article/941917-treatment. Accessed 8/8/2013.
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