Kuskokwim Syndrome (Arthrogryposis-like syndrome)

From Guide to YKHC Medical Practices

Revision as of 21:01, 19 October 2020 by JenniferH (talk | contribs)

(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/References

Common/Unique Medical Diagnoses