Popliteal pterygium syndrome
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
males and females
|
| gptkbp:alsoKnownAs |
gptkb:PPS
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Gorlin_et_al.
|
| https://www.w3.org/2000/01/rdf-schema#label |
Popliteal pterygium syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
IRF6 gene
|
| gptkbp:OMIM |
119500
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Van_der_Woude_syndrome
|
| gptkbp:symptom |
cleft lip
cleft palate genital anomalies syndactyly lower lip pits popliteal webbing |
| gptkbp:treatment |
surgical correction of anomalies
|
| gptkbp:bfsParent |
gptkb:IRF6
|
| gptkbp:bfsLayer |
8
|