Kuskokwim Syndrome (Arthrogryposis-like syndrome) - Revision history

JenniferH: /* Resources/References */

2020-11-20T14:05:54Z

Resources/References

← Older revision		Revision as of 14:05, 20 November 2020
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	*[[media:Kuskokwim-Syndrome.pdf\|Kuskokwim Syndrome Research Article PDF]]		*[[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]]		*[[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]]		[[Practicing Medicine in Bush Alaska—Some ABCs\|Common/Unique Medical Diagnoses]]

JenniferH at 21:01, 19 October 2020

2020-10-19T21:01:57Z

← Older revision		Revision as of 21:01, 19 October 2020
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	*Bracing and surgical correction of lower extremity contractures to allow ambulation		*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		*Occupation Therapy and Physical Therapy to enhance upper limb movement for self-care and lower limb movement for ambulation
	~~'''~~Resources~~:'''~~		===Resources/References===
	*NIH Genetic and Are Diseases Information Center: https://rarediseases.info.nih.gov/gard/3150/kuskokwim-disease/resources/1		*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		*National Library of Medicine Genetics Home Reference: http://ghr.nlm.nih.gov/condition/kuskokwim-syndrome

JenniferH: Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)''
'''Pathophysiology:''' Mutation i..."

2020-09-24T10:19:22Z

Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)'' '''Pathophysiology:''' Mutation i..."

New page

''(Adapted from [[media:Pocket-Guide-to-Alaska-Native-Pediatric-Diagnoses web.pdf|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
*[[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]]

Kuskokwim Syndrome (Arthrogryposis-like syndrome) - Revision history

JenniferH: /* Resources/References */

JenniferH at 21:01, 19 October 2020

JenniferH: Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)'' '''Pathophysiology:''' Mutation i..."

JenniferH: Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)''
'''Pathophysiology:''' Mutation i..."