Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:skin
nails teeth eyelids hair palate |
| gptkbp:alsoKnownAs |
Hay-Wells syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1976
Hay and Wells |
| https://www.w3.org/2000/01/rdf-schema#label |
AEC syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:TP63_gene
|
| gptkbp:OMIM |
106260
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
dental anomalies
cleft lip cleft palate ectodermal dysplasia skin erosions ankyloblepharon hair abnormalities nail abnormalities |
| gptkbp:treatment |
supportive care
management of skin erosions surgical repair of cleft lip/palate |
| gptkbp:bfsParent |
gptkb:p63
|
| gptkbp:bfsLayer |
6
|