kyphoscoliotic Ehlers-Danlos syndrome
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:skeletal_muscle
musculoskeletal system |
| gptkbp:causedBy |
mutation in FKBP14 gene
mutation in PLOD1 gene |
| gptkbp:complication |
respiratory insufficiency
scleral fragility vascular fragility |
| gptkbp:firstDescribed |
1975
|
| https://www.w3.org/2000/01/rdf-schema#label |
kyphoscoliotic Ehlers-Danlos syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
225400
|
| gptkbp:symptom |
joint hypermobility
skin hyperextensibility muscle hypotonia progressive kyphoscoliosis |
| gptkbp:treatment |
supportive care
physical therapy orthopedic intervention |
| gptkbp:bfsParent |
gptkb:Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
6
|