achondromplasia
MC dwarfism
failure of normal epiphyseal carilate formation
alkaptonuria
accumulation of homogentisic acid (tyrosine derivative), blue-black deposits in cart
ochronosis- calcification of discs
charcot marie tooth
progressive peroneal mm atrophy
downs
trisomy 21
transverse palmar/simian crease
edwards
trisomy 18
huntingtons chorea
age 30-50, chromosome 4, dec in GABA
basal ganglia affected, atrophy of caudate
marfans
arachnodactyly, subluxation of lens, dissecting aortic aneurysms, tall stature
osteogenesis imperfecta
brittle bones, blue sclera, type 1 collagen defect
phenylketonuria
cant convert phenylalanine to tyrosine due to phenylalanine hydroxylase
phenylalanine free diet for life
von gierkes
lacks glucose-6-phosphatase enzyme in liver
XS glycogen cant break down into glucose
sickle cell
H shaped vert, homozygous
Cri du Chat
cat cry of newborn, disappears at age 1-2
gauchers
lipodystrophy, XS glucocerebrosides in brain liver and spleen
krabbes
lipodystrophy, XS galactocerebrosides in white matter
niemann picks
lipodystrophy, inc sphingomyelin, sphingomyelinase deficiency
Tay sachs
lipodystrophy, inc gangliosides in brain, hexoaminidase A deficiency
cherry red spots on macula, infant death, ashkenasi jews
duchenes muscular dystrophy
recessive X linked, boys 3-7, pseudohypertrophy of calves, fat deposition
inc creatine phosphokinase
gowers manuever, waddling gait
fascioscapulohumeral dystrophy
automsomal dominant affects adults
face, scapula, upper arms
limb girdle dystrophy
autosomal, hips and shoulders
myotonic dystrophy
cant relax mm
