View source for Kuskokwim Syndrome (Arthrogryposis-like syndrome)

''(Adapted from [[media:Pocket-Guide-to-Alaska-Native-Pediatric-Diagnoses web.pdf|Pocket Guide to Alaska Native Pediatric Diagnoses]])''
<br/>'''Pathophysiology:''' Mutation in the FKBP10 gene resulting in the impaired collagen cross-linking and disorganization of collagen molecules causing congenital joint contractures
<br/>'''Inheritance:''' Autosomal recessive
<br/>'''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
<br/>'''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===
*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
*[[media:Kuskokwim-Syndrome.pdf|Kuskokwim Syndrome Research Article PDF]]
*[[media:jama-kusko disease.pdf|Arthrogryposis Syndrome (Kuskokwim Disease) in the Eskimo -- Jach H. Petajan, et al]]


[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]]