Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

My Neo Board Quickfacts > Named disorders > Flashcards

Named disorders Flashcards

1
Q

Sturge Webber

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Stickler Syndrome

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Prader-Willi (physical exam)

A

dolichocephaly
bitemporal narrowing
“almond-shaped” palpebral fissures
narrow nasal bridge

Cryptorchidism (males)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Angelman symptoms

A

hypotonia
severe mental deficiency
ataxia/jerky movements (puppet-like)
increased risk of seizure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Angelman (physical features)

A

widely-spaced teeth
large mouth
protruding tongue
decreased iris pigment
deep set eyes
maxillary hypoplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Congenital disorders of glycosylation (physical findings)

A

microcephaly
abnormal fat distribution (typically in suprapubic, iliac, and buttock region)
inverted nipples
strabismus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Congenital disorders of glycosylation (systemic issues)

A

hypotonia
cardiomyopathy
protein-losing enteropathy
hypoglycemia
coagulation anbormalities
seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

myotonic dystrophy (appearance)

A

joint ctroactures
bitemporal wasting
mask-like facies
tented upper lip

*note: Autosomal DOMinant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

SMA findings (prenatal form - type 0 vs type 1)

A

Type 0 (prenatal):
- multiple joint contractures
- generalized weakness at birth

Type 1 (early life)
- hypotonia, wekaness
- mild contractures of large joints
- absent deep tendon reflexes
- tongue fascinations

*deterioration in survival motor neurons leads to motor delays and often early death due 2/2 respiratory compromise

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Werdnig Hoffman disease aka…

A

SMA type 1 (presents in early life)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Frequently the only manifestation of NF-1 in infants and children

A

Cafe au lait macules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Prader-Wili genetics

A

deletion of PATernal allele in 15q11-13
(maternal uniparental disomy)

  • less commonly can result from a translocation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Angelman genetics

A

deletion of MATernal allele in 15q11-13
(paternal uniparental disomy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Myotonic dystrophy genetics

A

trinucleotide repeat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Smith-Lemli-Opitz characterists/genetics

A

Autosomal RECessive
defect in cholesterol synthesis

cataracts
2nd/3rd toe syndactuly
anteverted nostrils
genital abnormalities
microcephaly
growth restriction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Lissencephaly (what and when)

2 types

A

d/o of neuronal migration
during 12th-24th week
(often diagnosed after 26-28wks)
smooth cerebral cortex

a/w microcephaly, ventriculomegaly, widened Sylvian fissures
complete or partial agenesis of corpus callosum

Type 1 a/w facial dysmorphism

Type 2 a/w:
- Walker-Warburg - cerebrospinal-ocular dysplasia, hydrocephalus, cerebral malformations
- Miller-Dierker - facial dysmorphism, growth restriction,

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Agenesis of the corpus callosum

Type of abnormal developmental process (generally)

A

prosencephalic development (ventral induction)

(8-12 weeks gestation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Anencephaly

Type of abnormal developmental process (generally)

A

primary neurulation (dorsal induction)

(3-4 wks gestation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Angellman

Type of abnormal neuro developmental process (generally)

A

neuronal organization

(12 wks gestation to years)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Arnold Chiari

Type of abnormal developmental process (generally)

A

primary neurulation

(3-4 wks gestation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Autism

Type of abnormal neuro developmental process (generally)

A

neuronal organization

(12wks gestation to years of age)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Fragile X

Type of abnormal neuro neudevelopmental process (generally)

A

Neuronal organization

(beginning 12 weeks gestation through childhood)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Riley-Day syndrome

A

autosomal RECessive

familial dysautonomia
d/o of peripheral nervous sytem
diagnosed by pupil constriction in response to metacholine eye drops

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

McCune-Albright - tumor risk type

A

at risk for pituitary ademomas

25
Q

NF tumor types

A

neurofibromas
schwanomas
pheochromcytomas

26
Q

Von- Hippel-Lindau risk of what tumors

A

intracranial tumors
retinal angiomas
pheochromocytomas

27
Q

VACTERL association

A

V - vertebral anomalies
A - anal atresia
C - cardiovascular anomalies
T - TEF
E - esophageal atresia
R - renal anomalies
L - limb defects

28
Q

Noonan

A

Autosomal dominant

Hypertrophic cardiomyopathy
Pulmonic stenosis (60%)
Hypertelorism
Downward slanting palpebral fissures
Low-set ears
Short webbed neck
Short stature
Pectus excavatum
Cryptorchidism
Cognitive deficits
Bleeding disorders
Lymphedema

29
Q

A/w hypertrophic cardiomyopathy

A

Noonan*
Beckwith-Wiedemann
Tri 21
Costello (fasciocutaneoskeletal sydrome)
Eagle-Barrett (prune-belly syndrome)

30
Q

genetic d/o w/ “punched out” scalp lesions

A

Tri 13
(cutis aplasia)

31
Q

Tri 13

A

Brain - holoprosencephaly
- scalp lesions** cutis aplasia
Ears - low set
Polydactly
Polydactly
Cystic kidneys
Neutrophils with unique nuclear projections

32
Q

Tri 18

A

seizures
clenched fist
*overlapping fingers
hypoplastic nails
rocker bottom feet

prominent occiput, microcephaly
micropthalmia
low set malformed ears
horseshoe kidney
cardiac lesions

33
Q
A
34
Q

Cri du Chat chromosome

A

5th
- partial deletion short arm of Ch 5
- deleted portion is paternal 80% of de novo events

35
Q

Cri du chat cardiac

A

30%
VSD
PDA
ToF

36
Q

thumb hypoplasia
colobomas
microcephaly
high nasal bridge
large ears
short big toe

A

13q deletion

also:
CHD
increased risk of retinoblastoma (bilateral)
ptosis
cryptorchidism, hypospadius

37
Q

Greek warrior helmet

(broad beaked nose, high forehead, hypertelorism, supraorbital ridge continuous with nasal bridge)

A

Wolf Hirshorn
4p deletions syndrome

also: low set simple ear with pre auricular dimple

seizure, severe cognitive deficits
cardiac
GU - hypospad/cryptorchidism

38
Q

elfin facies
upturned nose, depressed nasal bridge
long philtrum
hypercalcemia
SUPRAvalvular aortic stenosis

A

Williams

“cocktail party personality”
hypoplastic nails
prominent lips
hoarse voice
stellate iris pattern
enamel hypoplasia

39
Q

Most common chromosomal deletion in humans

A

22q11.2

1 in 4000 live births
AD

40
Q

Rubenstein-Taybi

A

16p13
- encodes cAMP regulated enhancer binding protein (CREB)
- sporadic
*1/4 submicroscopic deletion (some point mutations)

41
Q

Broad thumbs
broad first toes
downward palpebral
hypoplastic maxilla
narrow palate
beaked nose
long eyelashes (no synophrys)

A

Rubenstein-Taybi

also eyes stuff, ear stuff, 25% have heart stuff

hirsutism, keloid
increased risk of tumors

42
Q

WAGR

A

11p13 deletion
usually de novo

W - Wilms tumor (50%)
A - Aniridia
G - Genitourinary
R - Retardation (mod to severe mental deficiency)

43
Q

Cardiac in Williams

A

Supravalvular subaortic stenosis
pps
VSD
AST
Coarctation

44
Q

Chediak-Higashi

A

abnormal neutrophil degranulation
leads to partial oculocutaneous albinism
nystagmus
peripheral neuropathy
recurrent infections

45
Q

Duration of treatment for asymptomatic lab negative neonate i/s/o maternal primary HSV infx (active lesions)

A

10 d acyclovir

46
Q

rash
lymphadenopathy
oligoclonal T-cells

A

atypical complete DiGeorge
(complete thymic aplasia)

tx:
steroids (to suppress oligoclonal T-cells)
thymus transplant

47
Q

Lowe syndrome

A

X-linked recessive

d/o of enzymatic function of golgi
aka oculocerebrorenal syndrome

eyes - cataracts, glaucoma
nervous - hypotonia, areflexia, severe MD
renal - tubular dysfunction, nephrotic syndrome
repro - cryptorchidism

fetal dx:
elevated maternal + amniotic AFP
increased nucleotide pyro-phosphate in skin fibroblasts

48
Q

triangular facies
protruding ears
large eyes + strabismus
drooping mouth

A

Bartter’s syndrome

  • defects in thick ascending LOH
    –> low K, met alkalosis, high urine Ca
    —> salt wasting/dehration
49
Q

Only X-linked muchopolysaccharidosis

A

Hunter

50
Q

Cat-eye syndrome

A

anal atresia
coloboma
extra part of Ch 22

51
Q

encephaloceole
polydactyly
cystic dysplastic kidney

A

Meckel-Gruber

52
Q

hypotonia (upper and lower extremities)
high forehead
flat orbital ridge
flat nasal bridge
hepatomegaly
calcifications in popliteal area

elevated very long chain FA

A

Zellweger Syndrome
aka
cerebro-hepato-renal syndrome

Autosomal RECessive
absence of hepatic and renal peroxisomes

53
Q

persistent diarrhea
failure to thrive
scaly eruption
+
eosinophilia

A

SCID

54
Q

upper limb defects
absent/abnormal thumbs
narrow shoulders
hypertelorism
______ heart defect

A

Holt-Oram

ASD

55
Q

hypotonia
macroglossia
hepatomegaly
comfortably tachypneic
cardiomegaly

A

Pompe
Type II Glycogen Storage disease
lysosomal a-glucosidase deficiency

*creatinine phosphokinase extremely elevated

56
Q

Elevated in Smith-Lemli-Opitz

A

7-dehydrocholesterol levels

(error in 7-dehydrocholesterol reductase)

57
Q
A
58
Q

intra-abdominal anomalies with Beckwith-Wiedemann

A

Wilms tumor
adrenal carcinoma
gonadoblastoma
hepatoblastoma
omphaloceole

59
Q
A

My Neo Board Quickfacts (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions