genetic disorders Flashcards
(84 cards)
1
Q
marfan syndrome - Genetic inheritance
A
AD
2
Q
marfan and key findings
A
ocular, cardiovascular, and skeletal system -
3
Q
marfan chromosome
A
15
4
Q
marfan and protein
A
fibrillin- provides structure for connective tissues
5
Q
arachnodactyly- disease
A
marfan
6
Q
marfan and segment ratios of body
A
decresed Upper to lower ratios
7
Q
marfan ocular finding
A
upward lens sybluxation
8
Q
CV and marfan
A
aortic root dilatation and mitral valve prolapse and aortic regurgitation
9
Q
marfan and DDX
A
homocystinuria
10
Q
marfan complications:
A
retinal detachment endocarditis sudden death hypertension and tchest trauma - increase dissection risk endocarditis prophylaxis
11
Q
prader willi - inheritance
A
deletion of chromosome 15- parental
12
Q
prader willi findings
A
fishmouth, almond-shaped eyes ftt followed by obesity as a result of hyperphagia short stature with small hands and feet hypotonia, MR, hypogonadism
13
Q
diagnosis of prader willi
A
FISH
14
Q
prader willi complications
A
infancy - hypotonia
childhood - obstructive sleep apnea
adulthood - cardiac disease and type 2 diabetes mellitus
15
Q
angelman syndrome - inheritance
A
chromosome 15 maternal
16
Q
angelman - findings
A
large mouth wide spaced teeth tongue protrusion progranthia blond hair and blue eyes
17
Q
diagnosis of angelman
A
FISH
18
Q
noonan syndrome - nheritance
A
male version of turner and females can be affecte -
AD - chromosome 12
19
Q
noonan syndrome - clinical
A
short stature,
shield chest
short webbed neck and low hairline, hypertelorism
epicanthal skin folds
20
Q
noonan - defect
A
right sided heart lesion
pulmonary valve stenosis
MR
21
Q
digeorges inheritance
A
deletion on ch. 22q11- sporadic and AD
22
Q
digeorge and symptoms
A
C- cardiac A- abrnormal facies T- tHYMIC HYPOPLASIA C- CLEFT PALATE H- HYPOCALCEMIA
23
Q
cardiac and digeorge
A
aortic arch anomalies and VSD and tetralogy of fallot
24
Q
digeorge and immune
A
thymus and parathyroid hypoplasia causes cell-mediated immunodeficiency and severe hypocalcemia
25
complication of digeorge
infections and seizure
26
velocardiofacial syndrome - inheritance
deletion on 22q11
27
clinical features of velocardiofacial syndrome
cleft palate, wide prominent nose, squared nasal root, short chin, fish-shaped mouth
28
velocardiofacial neuro
hypotonia and learning issues
29
ehlers -danlos inheritance
defective type V collagen - AD
30
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
31
Osteogenesis imperfecta
abnormal type I collagen -
32
osteogenesis imperfecta type 1 - clinical
```
blue sclearae
fragile bones
genu valgum
scoliosis
joint laxity
yellow-or gray blue teeth
easy bruisability
```
33
complications from OS type 1
early conductive hearing loss and skeletal deformities
34
VACTERL- VATER- association
```
V- vertebral defects
A- anal atresia
C- cardiac anomalies
TE - tracheoesophageal fistula
R- renal
L - limb defects
```
35
CHARGE
```
C- Colobomas
H- heart defects
A- atresia of the nasal choanae
R- retardation
G- genital anomalies
E- ear anomalies
```
36
williams syndrome - inheritance
deletion on ch. 7 - AD
37
william syndrome personality
cocktail party personality
38
william syndrome clinical feature
```
elfin facies
mental retardation and loquacious personality
supravalvular aortic stenosis
idiopathic hypercalcemia
connective tissue abnormalities
```
39
cornelia de lange
single eyebrow and short stature without skeletal abnormalities - inheritance is sporadic and AD
40
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
```
41
russel silver
short, skeletal asymmetry and normal head circumference
42
russell silver clinical
```
SGA
small triangular face
short stature and limb asymmetry
cafe-au-lait sports
excessive sweating
```
43
pierre robin syndrome
microganthia, cleft lip, palate,
44
complication of pierre robin syndrome
recurrentotitis media and Upper airway obstruction
45
criduchat syndrome inheritance/genetic
partial deletion of short ch. 5
46
criduchat clinical
microcephaly, MR, hypertelorism, downslanting palpebral fissures, catlike cry
47
gi complications of downs
duodenal obstruction and hirshsprungs disease
omphalocele
pyloric stenosis
48
cardiac and downs
endocardial cushion defects
49
complications in downs
```
atlantoaxial cervical spine instability
leukemia
celiac disease
early alz.
obstructive sleep apnea
conductive hearing loss
hypothyroid
cataracts/glaucoma
```
50
trisomy 18 - general facts
females
| second most common trisomy
51
trisomy 18 clinical
MR, hypertonia, scissoring of the lower extremities
delicate small facial features
clenched hands - overlapping digits
rocker bottom feet
52
prognosis for trisomy 18
95% will die within the first year of life
53
trisomy 13 - info
midline defects - face and forebrain
54
trisomy 13 clinical
holoprosencephaly, severe MR
microphthalmia
retinal dysplasa
cleft lip and palate
55
prognosis of trisomy 13
death within the first month of life
56
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
57
fragile x- inheritance
CGG repeats
x-linked
anticipation
58
fragile x - clinical
mild -mod retardation
macrocephaly
thickened nasal bridge
large testes
59
kleinfelter syndrome
male hypogonadism and infertility
60
kleinfelter clinical
```
tall with long extremities
hypogonadism
delayed puberty
gynecomastia
variable intelligence
```
61
rhizomelia
long bone abnormality
62
mesomelia
medial long bone abnormalities- ulna and tibia
63
acromelia
distal abnormalities
64
spondylodysplasias
spine abnormalities with or without limb abnormalities
65
achondroplasia- info
most common skeletal dysplasia - rhizomelia -
AD
sporadic
fibroblast growth factor receptor 3
66
achondroplasia clinical
craniofacial - megalencephaly, foramen magnum stenosis,
lumbar kyphosis
lumbar lordosis
rhizomelic limb shortening
trident-shaped hands
recurrent otitis media with conductive hearing loss
67
achondroplasia - complications
```
foramen magnum stenosis
hydrocephalus or cord compression
sudden infant death
Obstruct sleep apnea
orthopedic problems
```
68
potter syndrome - clinical info
severe oligohydraminos -
lung hypoplasia
fetal compression with limb abnormalities
chronic amniotic fluid leak or intrauterine renal failure
69
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
70
fetal alcohol syndrome-
SGA; FTT
microcephaly
long smooth philtrum with a thin smooth upper lip
71
acute severe neonatal illness
- well until acute illness in first few hours/weeks of life
72
management for inborn errors of metabolism
provide energy and IV glucose
prevent exposure to the offending substance
correct acidosis or hyperammonemia
73
homocystinuria
AR
74
homcystinuria - clinical
marfanoid look
downward lens subluzation
scoliosis
developmental delay
75
diagnosis of homocystinuria
increased methionine
76
management of homocystinuria
methionine-restricted diet
| asprin
77
tyrosinemia of newborn -
premature infants that receive high protein diets
78
tyrosinemia - clinical
2wks and poor feed or lethargy
79
diagnosis of tyrosinemia
elevated tyrosine and phenylalanine
80
treatment of tyrosinemia
vit. C and decrease protein intake
81
cystinuria
AR - defect in renal reabsorption of cystine, lysine, arginine, and ornithine
leads to renal stones
82
hartnup disease
AR - defect in the transport of neutral amino acids; some have intermittent ataxia; photosensitivity; MR and emotional lability
83
transient hyperammonium in newborns
self-limited -
| resp. distress, alkalosis, vomiting, and lethargy
84
ornithine transcarbamylase deficiency
most common urea cycle defect
| X linked
