Common genetic disorders Flashcards
Most common genetic disorder?
1) Klinefelters, 2) Down 3) Digeorge 4) Turner 5) marfan 6) tay sachs
E.C list the order
Down most common
down, klinfelter, turner, digeorge, marfan, tay sachs
which disease has brushfield spots and hypotonia often keys signs in infants?
Down Syndrome
List common physical findings seen in Down syndrome
protruding tongues, delayed growth/ development
what are common medical abnormalities for Down syndrome?
seizure, congenital heart disease, anlanto-axial instability, early dementia, obesity, leukemia
which genetic condition is 4X more likely to result in Leukemia?
Down syndrome
what is Kinfelters?
XXY disease, only occurs in males, causes infertility, feminine characteristics
what heart conditions are associate with Turner syndrome?
hypertension, bicuspid aortic valve, coarctation of the aorta
typical physical findings associated with Turner syndrome?
webbed neck, low hairline, no secondary sex characteristics, learning disabilities
Marfans is an inherited disorder of?
what does it affect?
the connective tissue
-affects the skeletal, cardiac and ophthalmic system
How is Tay says usually first diagnosed?
loss of muscle tone
- cherry red macula in eye
what happens in Tay Sachs disease?
loss of tone, then blindness, deafness, seizure, dementia, and death
What are the common cardiac abnormalities of Digeorge syndrome?
aortic arch abnormalities
what are the common cardiac abnormalities for Marfan’s
aortic regurgitation, mitral valve prolapse, aortic aneurysm
common physical findings in Marfan’s?
tall, large arm span that exceeds height, pectus, hyperextension of joints,
Digeorge syndrome affects which organs/ systems?
parathyroid gland, thymus and cotruncal region of the heart
why are they more susceptible to infection? (immature thymus gland that produces T cells)
