Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome craniosynostosis syndrome |
| gptkbp:affects |
gptkb:Titan
facial bones cranial sutures |
| gptkbp:characterizedBy |
hearing loss
hypertelorism midface hypoplasia dental abnormalities craniosynostosis proptosis normal intelligence beaked nose premature fusion of cranial sutures |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1912
Octave Crouzon |
| https://www.w3.org/2000/01/rdf-schema#label |
Crouzon syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D003440
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR2_gene
|
| gptkbp:OMIM |
123500
|
| gptkbp:prevalence |
1 in 25,000 births
|
| gptkbp:relatedTo |
gptkb:Apert_syndrome
gptkb:Pfeiffer_syndrome |
| gptkbp:synonym |
craniofacial dysostosis
|
| gptkbp:treatment |
hearing aids
craniofacial surgery orthodontic treatment |
| gptkbp:bfsParent |
gptkb:FGFR2
|
| gptkbp:bfsLayer |
6
|