Statements (66)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:abbreviation |
gptkb:CFC
|
| gptkbp:affects |
gptkb:nervous_system
cardiovascular system integumentary system gastrointestinal system both males and females |
| gptkbp:characterizedBy |
intellectual disability
developmental delay cardiac abnormalities distinctive facial features skin abnormalities |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1986
|
| gptkbp:fullName |
gptkb:Cardiofaciocutaneous_syndrome
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
CFC syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:MAP2K1_gene
gptkb:MAP2K2_gene gptkb:BRAF_gene gptkb:KRAS_gene |
| gptkbp:OMIM |
115150
|
| gptkbp:parentField |
gptkb:RASopathies
|
| gptkbp:prevalence |
very rare
|
| gptkbp:relatedTo |
gptkb:Costello_syndrome
gptkb:Noonan_syndrome |
| gptkbp:symptom |
gptkb:eczema
gptkb:hyperkeratosis hypotonia short stature muscle weakness vision problems hearing loss learning disabilities heart defects seizures pectus excavatum macrocephaly dental anomalies feeding difficulties ptosis skin abnormalities sparse eyebrows webbed neck joint hypermobility growth retardation delayed development distinctive facial appearance downslanting palpebral fissures gastrointestinal issues high-arched palate sparse, curly hair wide nasal bridge |
| gptkbp:treatment |
occupational therapy
physical therapy speech therapy early intervention programs symptomatic management multidisciplinary care cardiac monitoring |
| gptkbp:bfsParent |
gptkb:cardiofaciocutaneous_syndrome
gptkb:Cardiofaciocutaneous_syndrome |
| gptkbp:bfsLayer |
6
|