cardiofaciocutaneous syndrome
GPTKB entity
Statements (107)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:abbreviation |
gptkb:CFC_syndrome
|
| gptkbp:characterizedBy |
intellectual disability
heart defects developmental delay distinctive facial features feeding difficulties skin abnormalities growth retardation sparse hair |
| gptkbp:differentialDiagnosis |
gptkb:LEOPARD_syndrome
gptkb:Costello_syndrome gptkb:Noonan_syndrome |
| gptkbp:firstDescribed |
1986
|
| https://www.w3.org/2000/01/rdf-schema#label |
cardiofaciocutaneous syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:MAP2K1_gene
gptkb:MAP2K2_gene gptkb:BRAF_gene gptkb:KRAS_gene |
| gptkbp:namedAfter |
cardiac, facial, and cutaneous features
|
| gptkbp:OMIM |
115150
|
| gptkbp:partOf |
gptkb:RASopathy
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
gptkb:atrial_septal_defect
gptkb:eczema gptkb:gastrointestinal_reflux gptkb:hyperkeratosis gptkb:keratosis_pilaris gptkb:pulmonary_stenosis gptkb:cataracts gptkb:gastroesophageal_reflux_disease asthma diarrhea hydrocephalus nystagmus constipation hypotonia short stature sleep disturbances muscle weakness bladder dysfunction scoliosis hearing loss visual impairment allergies seizures sleep apnea failure to thrive recurrent infections pectus excavatum hypogonadism macrocephaly recurrent pneumonia renal anomalies strabismus coarse facial features cryptorchidism delayed speech dental anomalies epicanthal folds feeding problems in infancy hypertelorism low-set ears lymphatic dysplasia ptosis sparse eyebrows sparse eyelashes cleft palate dry skin joint hypermobility abdominal distension behavioral problems delayed puberty thick lips delayed motor milestones malocclusion autistic features broad thumbs broad toes deeply set eyes delayed crawling delayed sitting delayed walking downslanting palpebral fissures failure to thrive in infancy feeding intolerance feeding tube dependence high-arched palate hydronephrosis hypoplastic nails inguinal hernia laryngomalacia micrognathia pectus carinatum polyhydramnios (prenatal) prenatal growth retardation recurrent otitis media recurrent urinary tract infections recurrent vomiting tracheomalacia umbilical hernia ventriculomegaly widely spaced teeth |
| gptkbp:bfsParent |
gptkb:BRAF_gene
|
| gptkbp:bfsLayer |
5
|