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Peds Boards > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

MEN type 2

A

medullary thyroid cancer, pheochromocytoma, hyperparathyroidism

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2
Q

Marfan Syndrome

A

AD

aorta dilation, mitral valve prolapse, myopia, upward dislocation of lens, tall stature, scoliosis, pectus.

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3
Q

Loeys Dietz Syndrome

A

AD
pectus, scoliosis, aortic root aneurysms, hypertelorism, bifid uvula, craniosynostosis, cleft palate, arterial tortuosity.

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4
Q

TAR - thrombocytopenia with absent radius

A 
bilateral absent radii with shortened forearms with flexion at the elbow 
NORMAL thumb
thrombocytopenia
cardiac defects
elevated WBC
anemia
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5
Q

Wiskott-Aldrich Syndrome

A

X linked

thromocytopenia, eczema, immune deficiency

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6
Q

Angelman Syndrome

A

ID, ataxia, microcephaly, severe speech delay, happy demeanor, inappropriate laughter/excitability
seizures common
wide mouth, wide spaced teeth

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7
Q

Noonan syndrome

A

short stature, devo delay, heart - pulm valve stenosis (also ASD, HOCM), wide spaced nipples, unusual chest, pectus
lymphedema prenatally
webbed neck
cryptorchidism

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8
Q

Juvenile polyposis syndrome

A

5 or more polyps

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9
Q

Turner Syndrome

A 
bicuspid aortic valve
puffy hands/feet
nuchal webbing
small at birth
hx recurrent OM
difficulty with math
short stature/declining growth velocity
epicanthal folds, high-arched palate, mult nevi
cystic hygroma prenatally
aortic root dilation
primary ovarian failure
renal anomalies (horseshoe kidney)
skeletal anomalies (scoliosis, pes planus)
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10
Q

Tay-Sachs disease

A

hexosaminidase A deficiency
loss of motor skills, inc weakness, decreased alertness, increased startle
seizures, blindness, spasticity
die by age 4
cherry-red spot on fovea, hyperreflexia, ankle clonus, muscular hypotonia

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11
Q

Gaucher disease

A

HSM, osteopenia, focal lytic/sclerotic lesions of bone, lung disease, anemia with thrombocytopenia

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12
Q

Klippel-Feil syndrome

A 
congenital fusion of cervical vertebrae
short neck, low hairline
congenital heart disease
hearing loss
renal anomalies
congenital elevation of scapula (sprengel deformity)
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13
Q

Zellweger syndrome

A

AR
global hypotonia, poor feeding, seizures, liver cysts with dysfunction
flattened facies, large fontanelle, wide suture

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14
Q

List mitochondrial diseases

A

Leigh disease
Kearns-Sayre syndrome
LHON (Leber hereditary optic neuropathy)
MELAS (mitochondrial encephalopathy with stroke-like episodes and lactic acidosis)
MERRF (myoclonic epilepsy and red ragged fibers)

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15
Q

Trisomy 18

A 
absent corpus callosum
spina bifida poss
central apnea
cleft lip/palate
redundant neck skin
short sternum
clenched fist, overlapped fingers, hypoplastic nails
club hands
rocker bottom feet
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16
Q

Trisomy 13

A

diff from 18: holoprosencephaly, microphthalmia, cutis aplasia, polydactyly
cleft lip more likely than 18

clenched fist, rocker bottom feet
sensorineural deafness
blindness
central apnea
wide sutures
small eyes, hypertelorism
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17
Q

Klinefelter syndrome

A 
47, XXY
male hypogonadism, small testes, and infertility
somewhat lower IQ
difficulty in math
social difficulties
intention tremor
tall stature, long legs
gynecomastia
aortic stenosis, mitral valve prolapse
pectus
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18
Q

Wolf-Hirschhorn Syndrome

A 
4p deletion
severe ID
seizures
cleft lip/palate
absent seput pellucidum
Greek warrior helmet midline face
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19
Q

Cri-du-chat syndrome

A

5p deletion
larynx abnml
severe ID
small

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20
Q

Williams syndrome

A 
deletion
short stature
puffy eyelids, stellate irides
mod IQ
friendly, loquacious/cocktail personality, anxiety, hyperactivity
feeding probs
supravalvular aortic or pulm stenosis
early hypercalcemia
connective tissue probs
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21
Q

WAGR syndrome

A

Wilms tumor
Aniridia
Growth delay/GU
Retardation

can have cardiac issues and cholestasis

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22
Q

Prader-Willi Syndrome

A 
loss of paternally imprinted
ID
early FTT and hypotonia, then obsessive eating and hyperphagia
hypogonadism
cheerful with periods of aggression
short stature
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23
Q

Angelman syndrome

A 
loss of maternally imprinted 
severe ID
paroxysmal laughter
gelastic seizures 
self-mutilation
puppet-like gait (ataxia with jerky arm mvmt) - happy puppet
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24
Q

Waardenberg Syndrome

A 
abnormal neural crest development
pigmentary changes (iris heterochromia, white forelock, early graying)
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25
Q

Treacher Collins

A 
AD
nml intelligence
airway abnl, feeding difficulties 
deafness 2/2 ear abnl
facial bone abnl
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26
Q

Apert syndrome

A

craniosynostosis and hand syndactyly

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27
Q

Crouzon syndrome

A

craniosynostosis and no limb defects

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28
Q

Pfeiffer syndrome

A

craniosynostosis and broad thumb and toes

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29
Q

Saethre-Chotzen syndrome

A

craniosynostosis, brachydactyly and syndactyly

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30
Q

Carpenter syndrome

A

tower or clover-leaf skull due to multiple fused sutures, pre-axial polydactyly, obesity

31
Q

Achondroplasia

A 
abnml CSF circulation
macrocephaly
C-spine fusion
kyphoscoliosis
splayed fingers (trident hands)
32
Q

Marfan syndrome

A 
fibrillin-1 gene
low upper to lower segment ratio
dural ectasia
disc herniation
ectopia lentis (upward lens subluxation)
retinal detachment
aortic enlargement, mitral valve dysfunction, aneurysms
renal vein thrombosis
33
Q

Ehlers Danlos syndrome

A

decreased bowel motility can lead to IBS type sx
chronic HA (maybe due to fragile dura/CSF leaks)
chronic regional pain syndrome
ligamentous tears, joint subluxations
easy bruising, striae
eye - renital detachment

34
Q

Beckwith-Wiedemann syndrome

A

IGF2 is upregulated
infant mortality inc 2/2 hypoglycemia, polycythemia, resp probs
LGA, macroglossia
macrosomia, organomegaly, hemihypertrophy
nevus flammeus on forehead/eyelids
septal defects (cardiac)
omphalocele
inc risk Wilms tumors, hepatoblastoma, gonadoblastoma

35
Q

Sotos syndrome

A 
cerebral gigantism
ID
social difficulties
macrosomia
seizures
strabismus, otitis and hearing loss
cardiac
36
Q

Goldenhar Syndrome

A 
Hemifacial microsomia
ID
FTT
encephalocele, chiari malf
ear anomalies
eye: dermoids, cysts
vertebral fusion
cardiac/renal
37
Q

Poland sequence

A

abnml subclavian and/or vertebral artery blood flow
unilateral (all)
absent pecs, nipple, rib defects, dextrocardia, limb hypoplasias

38
Q

VACTERL

A 
vertebral
anorectal
cardiac
tracheo-esoph fistula
esophageal atresia
radial, renal
limb defects

need 3 for diagnosis

39
Q

Tuberous sclerosis

A

hypomelanotic macules - ash leaf macules, facial angiofibromas, shagreen patches, ungal fibromas, cortical tubers and subependymal nodules
seizures/infantile spasms
cardiac rhabdomyomas
renal angiomyolipomas

40
Q

Familial lipoprotein lipase deficiency

A

severe hypertriglyceridemia, abd pain, recurrent acute pancreatitis, HSM, eruptive cutaneous xanthomata

41
Q

Liddle Syndrome

A 
aka pseudoaldosteronism
HTN
AD
increase in collecting tubule Na reabsorption and K secretion. 
Hypokalemia, metabolic alkalosis
42
Q

Gordon syndrome

A

aka pseudohypoaldosteronism
HTH, hyperkalemia, metabolic acidosis
increased NaCl reabsorption resulting in volume expansion and HTN
reduced K and H+ excretion.

43
Q

Bartter syndrome

A

defect in NaCl reabsorption

growth restriction, hypokalemia, metabolic alkalosis, polyuria, polydipsia

44
Q

Gitelman syndrome

A

late childhood

muscle cramps from hypokalemia, polyuria, polydipsia

45
Q

Alport syndrome

A 
Gentic CKD
mutation in type 4 collagen
hematuria, proteinuria, ESRD
sensorineural hearing loss
eye anomalies - lenticonus
46
Q

Thin Basement membrane disease

A

benign familial hematuria
hematuria, no kidney failure
thin membranes on biopsy

47
Q

Denys-Drash syndrome

A

Triad of:
infant onset steroid resistant nephrotic syndrome
XY gonadal dysgenesis/ambiguous genitalia
Wilms tumor

48
Q

Fabry Disease

A

Alpha galactosidase A deficiency

kidney, heart, brain affected, present with mild hematura and proteinuria, ESRD in 40s, needs enzyme replacement tx

49
Q

Nail Patella Syndrome

A 
Hypoplasia/absence of patellae
dystrophic nails
dysplasia of elbows
iliac horns
renal disease
microhematuria, proteinuria
50
Q

Neurofibromatosis type 2

A

B/l vestibular schwannomas (tinnitus, imbalance, hearing loss)
meningiomas, ependymomas, astrocytomas
mononeuropathy (hand/foot drop, strabismus, persistent facial palsy)

51
Q

Alagille syndrome

A 
AD
paucity of bile ducts - leads to neonatal cholestasis
cardiac defects (periph pulm stenosis)
eye abnl (post embryotoxon)
butterfly vertebrae
Triangular facies
Abnl radius/ulna
52
Q

CHARGE

A 
C - coloboma/CNS disease
H - heart defects
A - choanal atresia
R - retardation
G - g/u abnl
E - ear abnl/deafness
53
Q

Russel Silver syndrome

A 
small height and weight, nml HC
triangular face
hemihypertrophy
cafe au lait spots
delayed bone age
54
Q

McCune-Albright syndrome

A

polyostotic fibrous dysplasia
cafe au lair spots
endocrine hyperfuction resulting in precocious puberty, adrenal adenomas, hyperthyroidism

55
Q

Cleidocranial dysostosis

A

clavicle a/hypoplasia
short stature
teeth abnormal

56
Q

Neurofibromatosis type 1

A 
cafe au lait 
axillary/inguinal freckling
neurofibromas
Lisch nodules
optic gliomas
57
Q

PHACES syndrome

A 
Posterior fossa brain malformation
Hemangiomas (segmental cervicofacial)
Arterial anomalies (intracerebral)
Cardiac defects
Eye abnormalities
Sternal defects
58
Q

Sturge weber

A

Port wine stain
Leptomeningeal enhancement
Glaucoma

59
Q

Hartnup disease

A

Amino acid transport defect

Pellagra-like

60
Q

Blue diaper syndrome

A

Tryptophan transport defect

61
Q

Lowe syndrome

A

Lysine and arginine transport defect

Devo delay, cataracts, rickets

62
Q

Acrodermatitis enteripathica

A

Zinc transport deficiency
Rash
Diarrhea
Ftt

63
Q

Proteus syndrome

A 
Hamartomatous polyps
Hemihypertrophy
Extremity gigantism
Angiomas
Pigmented nevi
64
Q

Peutz Jeghers syndrome

A

Hamartomatous polyps
Mucocutaneous hyperpigmentation
Increase risk of cancer (breast, cervical, ovary, testicle, pancreas)

65
Q

Shwachman Diamond syndrome

A

Pancreatic insufficiency
skeletal abnormalities
Neutropenia

66
Q

Johanson Blizzard

A 
Pancreatic insufficiency
Nostril hypoplasia/agenesis
Cardiac defects
Deafness
Hair issues
Gu defects
Devo delay
67
Q

Alpha1 antitrypsin deficiency

A

Infantile jaundice

Emphysema in young adults

68
Q

Wilson disease

A 
Copper accumulation, test ceruloplasmin
Kayser Fleischer rings
Liver, kidney, brain accumulation
Acute/chronic liver disease
Neuro sx
Acute hemolysis
Psych illness/behavior change
Fanconi syndrome
69
Q

Kabuki syndrome

A 
Arched eyebrows, long eyelashes, long palpebral fissures, lower lids turned out
Large earlobes
Devo delay
Prominence of fetal finger pads
Skeletal abnl
Cardiac defects
70
Q

Friedrich Ataxia

A

hypetrophic cardiomyopathy and conduction defects
ataxia
lower motor neuron issues (periph weakness, absent tendon reflexes)
high-arched feet
scoliosis
vision/hearing impairment

71
Q

Ataxia-Telangiectasia

A

ataxia, chorea
myoclonus, neuropathy
oculomotor apraxia
immue dysfunction

72
Q

Rubenstein Taybi syndrome

A

broad thumbs

cryptorchidism

73
Q

Neurofibromatosis type 2

A

Acoustic neuromas (aka vestibular schwannomas)
Retinal hamartomas
Meningiomas
Cranial/peripheral nerve schwannomas

74
Q

Von Hippel lindau

A

Hemangioblastomas esp in brain, spinal cord, retina

Pheochromocytoma

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