Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
craniosynostosis syndrome |
| gptkbp:complication |
vision problems
hearing loss developmental delay |
| gptkbp:eponymOf |
Rudolf Arthur Pfeiffer
|
| gptkbp:firstDescribed |
1964
Rudolf Arthur Pfeiffer |
| gptkbp:frequency |
about 1 in 100,000 births
|
| https://www.w3.org/2000/01/rdf-schema#label |
Pfeiffer syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR1_gene
gptkb:FGFR2_gene |
| gptkbp:OMIM |
101600
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Apert_syndrome
gptkb:Crouzon_syndrome |
| gptkbp:subspecies |
Type 3
Type 1 (classic) Type 2 (cloverleaf skull) |
| gptkbp:symptom |
broad thumbs
craniosynostosis broad great toes partial soft tissue syndactyly |
| gptkbp:treatment |
supportive care
surgery |
| gptkbp:bfsParent |
gptkb:FGFR1
gptkb:FGFR2 |
| gptkbp:bfsLayer |
6
|