Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
skeletal system
craniofacial development |
| gptkbp:causedBy |
mutation in FGFR2 gene
mutation in POR gene |
| gptkbp:firstDescribed |
1975
|
| https://www.w3.org/2000/01/rdf-schema#label |
Antley-Bixler syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:namedAfter |
gptkb:David_Bixler
Robert M. Antley |
| gptkbp:OMIM |
207410
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
genital anomalies
midface hypoplasia joint contractures craniosynostosis choanal atresia bowed femora radiohumeral synostosis |
| gptkbp:synonym |
craniosynostosis with radiohumeral synostosis
|
| gptkbp:treatment |
supportive care
surgical intervention |
| gptkbp:bfsParent |
gptkb:FGFR2
|
| gptkbp:bfsLayer |
6
|