Vrolik syndrome
E616018
Vrolik syndrome, also known as osteogenesis imperfecta type II, is a severe genetic disorder characterized by extremely fragile bones that fracture easily, often leading to perinatal lethality.
Statements (47)
| Predicate | Object |
|---|---|
| instanceOf |
genetic disorder
ⓘ
osteogenesis imperfecta type II ⓘ rare disease ⓘ skeletal disorder ⓘ |
| affectsSystem | skeletal system ⓘ |
| diagnosedBy |
molecular genetic testing
ⓘ
prenatal ultrasound ⓘ radiographic examination ⓘ |
| hasAlternativeName |
OI type II
ⓘ
congenital osteogenesis imperfecta type II ⓘ osteogenesis imperfecta type II NERFINISHED ⓘ |
| hasCause |
pathogenic variants in COL1A1
ⓘ
pathogenic variants in COL1A2 ⓘ |
| hasCharacteristic |
beaded ribs
ⓘ
blue sclerae ⓘ extremely fragile bones ⓘ intrauterine growth restriction ⓘ multiple in utero fractures ⓘ narrow thorax ⓘ perinatal lethality ⓘ severe bone deformities ⓘ shortened limbs ⓘ underossified skull ⓘ |
| hasEpidemiology | very rare ⓘ |
| hasICDClassification | ICD-10 Q78.0 ⓘ |
| hasInheritancePattern |
autosomal dominant
ⓘ
often due to de novo mutation ⓘ |
| hasManagement |
palliative care
ⓘ
supportive care ⓘ |
| hasModeOfDetection |
first trimester ultrasound in severe cases
ⓘ
second trimester ultrasound ⓘ |
| hasMolecularBasis | defective type I collagen ⓘ |
| hasOMIMID | 166210 ⓘ |
| hasOnset | prenatal onset ⓘ |
| hasOrphanetID | 666 ⓘ |
| hasPathophysiology | reduced quantity of structurally normal type I collagen or production of structurally abnormal type I collagen ⓘ |
| hasRadiologicFeature |
crumpled long bones
ⓘ
generalized osteopenia ⓘ multiple long bone fractures ⓘ platyspondyly ⓘ short, broad femurs ⓘ |
| hasTypicalOutcome |
death in the perinatal period
ⓘ
death in utero ⓘ |
| isSubclassOf |
congenital bone fragility disorder
ⓘ
lethal skeletal dysplasia ⓘ osteogenesis imperfecta NERFINISHED ⓘ |
| namedAfter | Willem Vrolik NERFINISHED ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.