Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
face
hands feet musculoskeletal system |
| gptkbp:category |
distal arthrogryposis
|
| gptkbp:characterizedBy |
skeletal abnormalities
clubfoot camptodactyly facial muscle contractures microstomia whistling appearance of lips |
| gptkbp:firstDescribed |
gptkb:Ernest_Arthur_Freeman
gptkb:Joseph_Harold_Sheldon 1938 |
| gptkbp:hasOrphanetID |
gptkb:ORPHA:282
|
| gptkbp:hasUMLS_CUI |
C0265374
|
| https://www.w3.org/2000/01/rdf-schema#label |
Freeman-Sheldon syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:MYH3_gene
|
| gptkbp:OMIM |
193700
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
respiratory problems
difficulty swallowing speech difficulties |
| gptkbp:synonym |
gptkb:craniocarpotarsal_dystrophy
whistling face syndrome |
| gptkbp:treatment |
supportive care
physical therapy surgical intervention |
| gptkbp:bfsParent |
gptkb:Melissa_Blake
|
| gptkbp:bfsLayer |
6
|