Term
| what is the prevelence of noonan in the world |
|
Definition
world wide
1:1000 babies
females = males |
|
|
Term
| normal function of SPH2, where does it come from |
|
Definition
| PTPN11 on chromosom 12q encodes SHP2 which is used for signal transudction and controls development of semilunar valve, cellular response to growth factors hormones, cytokines, and cell adhesion |
|
|
Term
|
Definition
| chromosome 12q PTP11 encodes protein tyrosine SPH2 and is mutated increasing SPH2 functions |
|
|
Term
| the SPH2 mutation is strongly associated with what clinical issues in studies |
|
Definition
80% with CHD
80% with pulmonary stenosis dysplastic valve
45% of the people with mutation have noonan |
|
|
Term
| what does the SPH2 mutation NOT associate with clinically |
|
Definition
|
|
Term
| why does SPH2 mutation not perfectly correlated with noonan (only 45% of people with the mutation have noonan) |
|
Definition
| because noonan also is associated with mutations on exons 2, 3, 13 |
|
|
Term
| what type of inheritence is noonan |
|
Definition
|
|
Term
| what are the musculoskeletal / deformation signs of noonan (10) |
|
Definition
forehead sloping and broad
posteriorly rotated thick ears
down slanting eyes
hyperteiorism
neck webbing
short stature
chest deformity
muscular hypotonia
scolosis
kyphosis |
|
|
Term
| why do peple with noonan have neck webbing |
|
Definition
| excess nuchal skin due to polyhydramanosis (excess amniotic fluid) |
|
|
Term
| what is short stature associated clinically in noonan |
|
Definition
nothing
it was thought it was associated with CHF but it isnt |
|
|
Term
| what are the most common cardiovascular problems in noonan |
|
Definition
pulmonary stenosis
dyslastic ASD
pulmonary artery branch stenosis
hypertrophic cardiomyopathy |
|
|
Term
| what are uncommon cardiovascular problems in noonan |
|
Definition
ostium premium
tertalogy of fallot
PDA
VDA
MVP
coarctation |
|
|
Term
| what cardiovascular problems have been reported like almost never in noonan |
|
Definition
TAPVR
ebsteins
AS
subaortic stenosis
coronary artery abnormalities
dilated ascending aorta
polyvalvular disease
pulmonary artrsia with IVS |
|
|
Term
| what cardiovascular problem is never seen in noonan |
|
Definition
| transposition of great arteries |
|
|
Term
| people with noonan have abnormal EKG, what does this mean |
|
Definition
left axis deviation
deep S over precordial leads |
|
|
Term
| people with noonan have bleeding problems, why |
|
Definition
thrombocytopenia
bruising lots due to factor XI deficiency |
|
|
Term
| what urogenital symptoms are there with noonan |
|
Definition
undescended testis
delayed puberty
menarche avg 14.6 yo |
|
|
Term
| what developmental problems are there with noonan |
|
Definition
|
|
Term
| what non musculoskeletal, cardiovascular, genital, and developmental problems are there in noonan |
|
Definition
hyperaldosteronism
hepatosplenomeagly
kidney abnormalities
feeding difficulities 50%
strabismus
refractive error ptosis
edema |
|
|
Term
| what are the tx for the pulmonary problems in noonan |
|
Definition
ballon vavuloplasty dosent work so do valvectomy
resection of anomalous muscle bundles
outflow patch may be needed |
|
|
Term
| what is a sign of poor prognosis with noonan |
|
Definition
hypertrophic cardiomypoathy
symptomatic infant
could cause sudden death |
|
|
Term
| how is noonan hypertrophic cardiomyopathy tx |
|
Definition
B blockers
Ca channel blockers
surgery in symptomatic obstruction
cardic transplant may be needed |
|
|
Term
| how does noonan usually progress with tx |
|
Definition
| rapid progression in infancy and slow progression to final stability |
|
|
Term
| what disease is a variation of noonan |
|
Definition
|
|
Term
| what is the cause of lepoard syndrome |
|
Definition
| mutation in exons 7, 12, 13 on chromosome 12q area for coding PTPN11 |
|
|
Term
| signs of leopard syndrome |
|
Definition
noonan phenotype plus
lentigines
hearing loss |
|
|
Term
| cause of cardiofascious cutaneous syndrome |
|
Definition
|
|
Term
| musculoskeletal signs of CFC |
|
Definition
high forehead
leage head
bitemporal constriction
flat nasal bridge
low set posterior rotated ears |
|
|
Term
|
Definition
sparse curly friable hair
sparse or absent eyebrows
patchy hyperkeratosis - occasionally severe
generalized ichthyosis
keratosis pilaris |
|
|
Term
| developmental signs of CHF |
|
Definition
| delayed motor and mental skills |
|
|
Term
| non msk, skin, or developmental signs of CHF |
|
Definition
failure to thribe
frequent GI complaints
fluttering eyelids
oral adversion
tactile hypersensitivity |
|
|
Term
|
Definition
|
|
Term
| musculoskeletal signs of costello |
|
Definition
coarse facial features
large head
short neck
sparse curly hair
short wide nose
thick prominent lips
large tongue
ulnar deviation
post nasal growth retardation |
|
|
Term
|
Definition
loose skin on hands and feet
deep palmar and plantar creases
nasal papillomata |
|
|
Term
| non msk and skin signs of costello |
|
Definition
developmental delay
tachy arrhythmia
tumor predisposition |
|
|
Term
| most common cardiac findings in noonan |
|
Definition
71% pulmonary stenosis
21% ASD |
|
|
Term
| most common cardiac findings in leopard |
|
Definition
80% HCM
10% pulmonary stenosis |
|
|
Term
| most common cardiac fundings in CFC |
|
Definition
45% pulmonary stenosis
40% HCM
23% ASD |
|
|
Term
| most common cardiac findings in costello |
|
Definition
46% pulmonary stneosis
44% HCM |
|
|
Term
| what are the common facial features in all the noonan like diseases |
|
Definition
large head
low set posterior rotated ears
flat nasal bridges
downward slant of palpebral fissures |
|
|
Term
| what are common non-facial features in all the noonan like diseases |
|
Definition
failure to thrive
hypotonia
polyhydraminos
short stature |
|
|
Term
| what are symptoms unique to noonan |
|
Definition
bleeding diathesis
unusual EKG
juvenile myelomonocytic leukemia |
|
|
Term
| what are symptoms unique to CFC |
|
Definition
frequent eye fluttering
oral adversion
tactile hypersensitivity |
|
|
Term
| what are symptoms unique to costello |
|
Definition
loose skin
unlar deviation
papillomata
tumor predisposition
tachycardia |
|
|
Term
| how are all the noonan like disorders managed |
|
Definition
cardiology and genetic consult
hearing and eye evaluation
growth hormones |
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|
