Kuskokwim Syndrome (Arthrogryposis-like syndrome)
From Guide to YKHC Medical Practices
(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)
Pathophysiology: Mutation in the FKBP10 gene resulting in the impaired collagen cross-linking and disorganization of collagen molecules causing congenital joint contractures
Inheritance: Autosomal recessive
Demographics:
- rare, incidence unknown
- Found only in the Yupik population in the Bethel Area
Signs/Symptoms:
- range and severity of contractures varies greatly
- contractures are generally present at birth, worsen during childhood, then stabilize
- often contractures of large joints, especially knees and elbows
- other joints may also be involved, especially in lower extremities
- milder skeletal features are common including
- Spine: scoliosis, lordosis, spondylolisthesis
- Feet: bunions (hallux valgus), flat feet (plano valgus), club feet (talipes equinovarus)
Diagnosis: Genetic testing - discuss with YKHC On-call Pediatrician
Management:
- refer to Pediatric Orthopedics
- Bracing and surgical correction of lower extremity contractures to allow ambulation
- Occupation Therapy and Physical Therapy to enhance upper limb movement for self-care and lower limb movement for ambulation
Resources:
- NIH Genetic and Are Diseases Information Center: https://rarediseases.info.nih.gov/gard/3150/kuskokwim-disease/resources/1
- National Library of Medicine Genetics Home Reference: http://ghr.nlm.nih.gov/condition/kuskokwim-syndrome
- Kuskokwim Syndrome Research Article PDF
- Arthrogryposis Syndrome (Kuskokwim Disease) in the Eskimo -- Jach H. Petajan, et al
