Beare-Stevenson cutis gyrata syndrome
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:skin
skull limbs |
| gptkbp:causedBy |
mutation in FGFR2 gene
|
| gptkbp:firstDescribed |
1992
|
| gptkbp:frequency |
very rare
|
| gptkbp:hasOrphanetID |
ORPHA:2131
|
| https://www.w3.org/2000/01/rdf-schema#label |
Beare-Stevenson cutis gyrata syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
gptkb:Stevenson
Beare |
| gptkbp:OMIM |
123790
|
| gptkbp:symptom |
craniosynostosis
acrocephalosyndactyly cutis gyrata skin anomalies |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:FGFR2
|
| gptkbp:bfsLayer |
6
|