Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
craniofacial development
|
| gptkbp:alsoKnownAs |
mandibulofacial dysostosis
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1900
Edward Treacher Collins |
| gptkbp:hasOrphanetID |
ORPHA:525
|
| https://www.w3.org/2000/01/rdf-schema#label |
Treacher Collins syndrome
|
| gptkbp:ICD-10_code |
Q75.4
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D013705
|
| gptkbp:mutationAssociatedWith |
gptkb:POLR1C_gene
POLR1D gene TCOF1 gene |
| gptkbp:namedAfter |
Edward Treacher Collins
|
| gptkbp:OMIM |
154500
|
| gptkbp:prevalence |
1 in 50,000 live births
|
| gptkbp:prognosis |
normal life expectancy
|
| gptkbp:riskOfIntellectualDisability |
low
|
| gptkbp:symptom |
hearing loss
cleft palate absent or small cheekbones downward slanting eyes malformed or absent ears notched lower eyelids small jaw and chin underdeveloped facial bones |
| gptkbp:treatment |
speech therapy
hearing aids surgical intervention |
| gptkbp:bfsParent |
gptkb:RNA_polymerase_III
|
| gptkbp:bfsLayer |
6
|