|
gptkbp:instanceOf
|
genetic disorder
|
|
gptkbp:affects
|
multiple organ systems
|
|
gptkbp:alsoKnownAs
|
gptkb:FCS_syndrome
gptkb:facio-cutaneous-skeletal_syndrome
|
|
gptkbp:cardiacFeatures
|
gptkb:arrhythmia
hypertrophic cardiomyopathy
|
|
gptkbp:category
|
gptkb:RASopathy
|
|
gptkbp:diagnosedBy
|
genetic testing
|
|
gptkbp:facialFeatures
|
large mouth
full lips
nasal papillomata
|
|
gptkbp:feedingIssues
|
failure to thrive
gastroesophageal reflux
|
|
gptkbp:firstDescribed
|
gptkb:Jack_Costello
1971
|
|
gptkbp:growthFeatures
|
postnatal growth retardation
prenatal overgrowth
|
|
gptkbp:hasOrphanetID
|
gptkb:ORPHA:282
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Costello syndrome
|
|
gptkbp:ICD-10_code
|
Q87.1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:lifeExpectancy
|
reduced
|
|
gptkbp:musculoskeletalFeatures
|
deep palmar and plantar creases
joint laxity
ulnar deviation of wrists
|
|
gptkbp:mutationAssociatedWith
|
gptkb:HRAS_gene
de novo
|
|
gptkbp:neurologicalFeatures
|
hypotonia
intellectual disability
developmental delay
|
|
gptkbp:notableTumors
|
gptkb:neuroblastoma
gptkb:rhabdomyosarcoma
bladder carcinoma
|
|
gptkbp:OMIM
|
218040
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:prevalenceEstimate
|
less than 1 in 1,000,000
|
|
gptkbp:relatedTo
|
gptkb:Cardiofaciocutaneous_syndrome
gptkb:Noonan_syndrome
|
|
gptkbp:riskFactor
|
malignant tumors
|
|
gptkbp:skinFeatures
|
deep creases
loose skin on hands and feet
|
|
gptkbp:symptom
|
intellectual disability
short stature
developmental delay
coarse facial features
skeletal abnormalities
cardiac abnormalities
feeding difficulties
increased risk of tumors
loose skin
|
|
gptkbp:treatment
|
supportive care
symptom management
|
|
gptkbp:bfsParent
|
gptkb:HRAS
gptkb:KRAS
gptkb:UniProt:P01112
gptkb:chromosome_11p15.5_(HRAS)
gptkb:chromosome_12p12.1_(KRAS)
|
|
gptkbp:bfsLayer
|
5
|