genetic disorders Flashcards
marfan syndrome - Genetic inheritance
AD
marfan and key findings
ocular, cardiovascular, and skeletal system -
marfan chromosome
15
marfan and protein
fibrillin- provides structure for connective tissues
arachnodactyly- disease
marfan
marfan and segment ratios of body
decresed Upper to lower ratios
marfan ocular finding
upward lens sybluxation
CV and marfan
aortic root dilatation and mitral valve prolapse and aortic regurgitation
marfan and DDX
homocystinuria
marfan complications:
retinal detachment endocarditis sudden death hypertension and tchest trauma - increase dissection risk endocarditis prophylaxis
prader willi - inheritance
deletion of chromosome 15- parental
prader willi findings
fishmouth, almond-shaped eyes ftt followed by obesity as a result of hyperphagia short stature with small hands and feet hypotonia, MR, hypogonadism
diagnosis of prader willi
FISH
prader willi complications
infancy - hypotonia
childhood - obstructive sleep apnea
adulthood - cardiac disease and type 2 diabetes mellitus
angelman syndrome - inheritance
chromosome 15 maternal
angelman - findings
large mouth wide spaced teeth tongue protrusion progranthia blond hair and blue eyes
diagnosis of angelman
FISH
noonan syndrome - nheritance
male version of turner and females can be affecte -
AD - chromosome 12
noonan syndrome - clinical
short stature,
shield chest
short webbed neck and low hairline, hypertelorism
epicanthal skin folds
noonan - defect
right sided heart lesion
pulmonary valve stenosis
MR
digeorges inheritance
deletion on ch. 22q11- sporadic and AD
digeorge and symptoms
C- cardiac A- abrnormal facies T- tHYMIC HYPOPLASIA C- CLEFT PALATE H- HYPOCALCEMIA
cardiac and digeorge
aortic arch anomalies and VSD and tetralogy of fallot
digeorge and immune
thymus and parathyroid hypoplasia causes cell-mediated immunodeficiency and severe hypocalcemia
complication of digeorge
infections and seizure
velocardiofacial syndrome - inheritance
deletion on 22q11
clinical features of velocardiofacial syndrome
cleft palate, wide prominent nose, squared nasal root, short chin, fish-shaped mouth
velocardiofacial neuro
hypotonia and learning issues
ehlers -danlos inheritance
defective type V collagen - AD
ehlers danlos findings
hyperextensible joints
fragile skin
tissue paper thin scars
MV prolapse/ aortic root dilation and fragile blood vessels that resultin ease of bruising
GI - constipation, rectal prolapse and hernia
Osteogenesis imperfecta
abnormal type I collagen -
osteogenesis imperfecta type 1 - clinical
blue sclearae fragile bones genu valgum scoliosis joint laxity yellow-or gray blue teeth easy bruisability
complications from OS type 1
early conductive hearing loss and skeletal deformities
VACTERL- VATER- association
V- vertebral defects A- anal atresia C- cardiac anomalies TE - tracheoesophageal fistula R- renal L - limb defects
CHARGE
C- Colobomas H- heart defects A- atresia of the nasal choanae R- retardation G- genital anomalies E- ear anomalies
williams syndrome - inheritance
deletion on ch. 7 - AD
william syndrome personality
cocktail party personality
william syndrome clinical feature
elfin facies mental retardation and loquacious personality supravalvular aortic stenosis idiopathic hypercalcemia connective tissue abnormalities
cornelia de lange
single eyebrow and short stature without skeletal abnormalities - inheritance is sporadic and AD
cornelia de lange clinical
SGA and FTT single eyebrow - microcephaly infantile hypertonia MR small hands and feet behavioral- lack of facial expression and self destructive tendency
russel silver
short, skeletal asymmetry and normal head circumference
russell silver clinical
SGA small triangular face short stature and limb asymmetry cafe-au-lait sports excessive sweating
pierre robin syndrome
microganthia, cleft lip, palate,
complication of pierre robin syndrome
recurrentotitis media and Upper airway obstruction
criduchat syndrome inheritance/genetic
partial deletion of short ch. 5
criduchat clinical
microcephaly, MR, hypertelorism, downslanting palpebral fissures, catlike cry
gi complications of downs
duodenal obstruction and hirshsprungs disease
omphalocele
pyloric stenosis
cardiac and downs
endocardial cushion defects
complications in downs
atlantoaxial cervical spine instability leukemia celiac disease early alz. obstructive sleep apnea conductive hearing loss hypothyroid cataracts/glaucoma
trisomy 18 - general facts
females
second most common trisomy
trisomy 18 clinical
MR, hypertonia, scissoring of the lower extremities
delicate small facial features
clenched hands - overlapping digits
rocker bottom feet
prognosis for trisomy 18
95% will die within the first year of life
trisomy 13 - info
midline defects - face and forebrain
trisomy 13 clinical
holoprosencephaly, severe MR
microphthalmia
retinal dysplasa
cleft lip and palate
prognosis of trisomy 13
death within the first month of life
turner syndrome- clinical
short
webbed neck
shieldchest
swelling of the dorsum of the hands and feet
ovarian dysgenesis
left sided heart lesions - coarcation of the aorta
hypothyroid
fragile x- inheritance
CGG repeats
x-linked
anticipation
fragile x - clinical
mild -mod retardation
macrocephaly
thickened nasal bridge
large testes
kleinfelter syndrome
male hypogonadism and infertility
kleinfelter clinical
tall with long extremities hypogonadism delayed puberty gynecomastia variable intelligence
rhizomelia
long bone abnormality
mesomelia
medial long bone abnormalities- ulna and tibia
acromelia
distal abnormalities
spondylodysplasias
spine abnormalities with or without limb abnormalities
achondroplasia- info
most common skeletal dysplasia - rhizomelia -
AD
sporadic
fibroblast growth factor receptor 3
achondroplasia clinical
craniofacial - megalencephaly, foramen magnum stenosis,
lumbar kyphosis
lumbar lordosis
rhizomelic limb shortening
trident-shaped hands
recurrent otitis media with conductive hearing loss
achondroplasia - complications
foramen magnum stenosis hydrocephalus or cord compression sudden infant death Obstruct sleep apnea orthopedic problems
potter syndrome - clinical info
severe oligohydraminos -
lung hypoplasia
fetal compression with limb abnormalities
chronic amniotic fluid leak or intrauterine renal failure
amniotic band syndrome - clinic
rupture of the amniotic sac
fluid leak leads to intrauterine constraints and small strands from the amnion may wrap around the fetus causing limb scarring and amputation
fetal alcohol syndrome-
SGA; FTT
microcephaly
long smooth philtrum with a thin smooth upper lip
acute severe neonatal illness
- well until acute illness in first few hours/weeks of life
management for inborn errors of metabolism
provide energy and IV glucose
prevent exposure to the offending substance
correct acidosis or hyperammonemia
homocystinuria
AR
homcystinuria - clinical
marfanoid look
downward lens subluzation
scoliosis
developmental delay
diagnosis of homocystinuria
increased methionine
management of homocystinuria
methionine-restricted diet
asprin
tyrosinemia of newborn -
premature infants that receive high protein diets
tyrosinemia - clinical
2wks and poor feed or lethargy
diagnosis of tyrosinemia
elevated tyrosine and phenylalanine
treatment of tyrosinemia
vit. C and decrease protein intake
cystinuria
AR - defect in renal reabsorption of cystine, lysine, arginine, and ornithine
leads to renal stones
hartnup disease
AR - defect in the transport of neutral amino acids; some have intermittent ataxia; photosensitivity; MR and emotional lability
transient hyperammonium in newborns
self-limited -
resp. distress, alkalosis, vomiting, and lethargy
ornithine transcarbamylase deficiency
most common urea cycle defect
X linked
