Arthrogryposis multiplex congenita
GPTKB entity
Statements (39)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
musculoskeletal disorder |
gptkbp:affects |
gptkb:skeletal_muscle
joints muscles |
gptkbp:alsoKnownAs |
gptkb:AMC
arthrogryposis |
gptkbp:causedBy |
genetic factors
environmental factors |
gptkbp:complication |
respiratory problems
scoliosis feeding difficulties hip dislocation |
gptkbp:diagnosedBy |
genetic testing
clinical examination prenatal ultrasound |
gptkbp:fieldOfStudy |
genetics
pediatrics orthopedics |
gptkbp:firstDescribed |
1841
|
https://www.w3.org/2000/01/rdf-schema#label |
Arthrogryposis multiplex congenita
|
gptkbp:ICD-10_code |
Q74.3
|
gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
gptkbp:OMIM |
108110
|
gptkbp:prevalence |
1 in 3,000 to 1 in 5,000 live births
|
gptkbp:subspecies |
gptkb:amyoplasia
gptkb:syndromic_arthrogryposis distal arthrogryposis |
gptkbp:symptom |
muscle weakness
joint contractures limited joint movement |
gptkbp:treatment |
orthopedic surgery
occupational therapy physical therapy splinting |
gptkbp:bfsParent |
gptkb:Lee_Pearson
|
gptkbp:bfsLayer |
7
|