Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
both males and females
|
| gptkbp:alsoKnownAs |
acrocephalosyndactyly type I
|
| gptkbp:characterizedBy |
midface hypoplasia
craniosynostosis syndactyly |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:eponymOf |
Eugène Apert
|
| gptkbp:firstDescribed |
1906
Eugène Apert |
| https://www.w3.org/2000/01/rdf-schema#label |
Apert syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR2_gene
|
| gptkbp:OMIM |
101200
|
| gptkbp:prevalence |
1 in 65,000 to 88,000 births
|
| gptkbp:relatedTo |
gptkb:Crouzon_syndrome
gptkb:Pfeiffer_syndrome |
| gptkbp:riskFactor |
advanced paternal age
|
| gptkbp:symptom |
hearing loss
abnormal skull shape fusion of fingers and toes intellectual disability (variable) |
| gptkbp:treatment |
supportive care
surgery |
| gptkbp:bfsParent |
gptkb:FGFR2
|
| gptkbp:bfsLayer |
6
|