Genetic Disorders Flashcards
(74 cards)
1
Q
MEN type 2
A
medullary thyroid cancer, pheochromocytoma, hyperparathyroidism
2
Q
Marfan Syndrome
A
AD
aorta dilation, mitral valve prolapse, myopia, upward dislocation of lens, tall stature, scoliosis, pectus.
3
Q
Loeys Dietz Syndrome
A
AD
pectus, scoliosis, aortic root aneurysms, hypertelorism, bifid uvula, craniosynostosis, cleft palate, arterial tortuosity.
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
5
Q
Wiskott-Aldrich Syndrome
A
X linked
thromocytopenia, eczema, immune deficiency
6
Q
Angelman Syndrome
A
ID, ataxia, microcephaly, severe speech delay, happy demeanor, inappropriate laughter/excitability
seizures common
wide mouth, wide spaced teeth
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
8
Q
Juvenile polyposis syndrome
A
5 or more polyps
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)
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
11
Q
Gaucher disease
A
HSM, osteopenia, focal lytic/sclerotic lesions of bone, lung disease, anemia with thrombocytopenia
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)
13
Q
Zellweger syndrome
A
AR
global hypotonia, poor feeding, seizures, liver cysts with dysfunction
flattened facies, large fontanelle, wide suture
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)
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
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
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
18
Q
Wolf-Hirschhorn Syndrome
A
4p deletion severe ID seizures cleft lip/palate absent seput pellucidum Greek warrior helmet midline face
19
Q
Cri-du-chat syndrome
A
5p deletion
larynx abnml
severe ID
small
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
21
Q
WAGR syndrome
A
Wilms tumor
Aniridia
Growth delay/GU
Retardation
can have cardiac issues and cholestasis
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
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
24
Q
Waardenberg Syndrome
A
abnormal neural crest development pigmentary changes (iris heterochromia, white forelock, early graying)
25
Treacher Collins
```
AD
nml intelligence
airway abnl, feeding difficulties
deafness 2/2 ear abnl
facial bone abnl
```
26
Apert syndrome
craniosynostosis and hand syndactyly
27
Crouzon syndrome
craniosynostosis and no limb defects
28
Pfeiffer syndrome
craniosynostosis and broad thumb and toes
29
Saethre-Chotzen syndrome
craniosynostosis, brachydactyly and syndactyly
30
Carpenter syndrome
tower or clover-leaf skull due to multiple fused sutures, pre-axial polydactyly, obesity
31
Achondroplasia
```
abnml CSF circulation
macrocephaly
C-spine fusion
kyphoscoliosis
splayed fingers (trident hands)
```
32
Marfan syndrome
```
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
Ehlers Danlos syndrome
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
Beckwith-Wiedemann syndrome
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
Sotos syndrome
```
cerebral gigantism
ID
social difficulties
macrosomia
seizures
strabismus, otitis and hearing loss
cardiac
```
36
Goldenhar Syndrome
```
Hemifacial microsomia
ID
FTT
encephalocele, chiari malf
ear anomalies
eye: dermoids, cysts
vertebral fusion
cardiac/renal
```
37
Poland sequence
abnml subclavian and/or vertebral artery blood flow
unilateral (all)
absent pecs, nipple, rib defects, dextrocardia, limb hypoplasias
38
VACTERL
```
vertebral
anorectal
cardiac
tracheo-esoph fistula
esophageal atresia
radial, renal
limb defects
```
need 3 for diagnosis
39
Tuberous sclerosis
hypomelanotic macules - ash leaf macules, facial angiofibromas, shagreen patches, ungal fibromas, cortical tubers and subependymal nodules
seizures/infantile spasms
cardiac rhabdomyomas
renal angiomyolipomas
40
Familial lipoprotein lipase deficiency
severe hypertriglyceridemia, abd pain, recurrent acute pancreatitis, HSM, eruptive cutaneous xanthomata
41
Liddle Syndrome
```
aka pseudoaldosteronism
HTN
AD
increase in collecting tubule Na reabsorption and K secretion.
Hypokalemia, metabolic alkalosis
```
42
Gordon syndrome
aka pseudohypoaldosteronism
HTH, hyperkalemia, metabolic acidosis
increased NaCl reabsorption resulting in volume expansion and HTN
reduced K and H+ excretion.
43
Bartter syndrome
defect in NaCl reabsorption
| growth restriction, hypokalemia, metabolic alkalosis, polyuria, polydipsia
44
Gitelman syndrome
late childhood
| muscle cramps from hypokalemia, polyuria, polydipsia
45
Alport syndrome
```
Gentic CKD
mutation in type 4 collagen
hematuria, proteinuria, ESRD
sensorineural hearing loss
eye anomalies - lenticonus
```
46
Thin Basement membrane disease
benign familial hematuria
hematuria, no kidney failure
thin membranes on biopsy
47
Denys-Drash syndrome
Triad of:
infant onset steroid resistant nephrotic syndrome
XY gonadal dysgenesis/ambiguous genitalia
Wilms tumor
48
Fabry Disease
Alpha galactosidase A deficiency
| kidney, heart, brain affected, present with mild hematura and proteinuria, ESRD in 40s, needs enzyme replacement tx
49
Nail Patella Syndrome
```
Hypoplasia/absence of patellae
dystrophic nails
dysplasia of elbows
iliac horns
renal disease
microhematuria, proteinuria
```
50
Neurofibromatosis type 2
B/l vestibular schwannomas (tinnitus, imbalance, hearing loss)
meningiomas, ependymomas, astrocytomas
mononeuropathy (hand/foot drop, strabismus, persistent facial palsy)
51
Alagille syndrome
```
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
CHARGE
```
C - coloboma/CNS disease
H - heart defects
A - choanal atresia
R - retardation
G - g/u abnl
E - ear abnl/deafness
```
53
Russel Silver syndrome
```
small height and weight, nml HC
triangular face
hemihypertrophy
cafe au lait spots
delayed bone age
```
54
McCune-Albright syndrome
polyostotic fibrous dysplasia
cafe au lair spots
endocrine hyperfuction resulting in precocious puberty, adrenal adenomas, hyperthyroidism
55
Cleidocranial dysostosis
clavicle a/hypoplasia
short stature
teeth abnormal
56
Neurofibromatosis type 1
```
cafe au lait
axillary/inguinal freckling
neurofibromas
Lisch nodules
optic gliomas
```
57
PHACES syndrome
```
Posterior fossa brain malformation
Hemangiomas (segmental cervicofacial)
Arterial anomalies (intracerebral)
Cardiac defects
Eye abnormalities
Sternal defects
```
58
Sturge weber
Port wine stain
Leptomeningeal enhancement
Glaucoma
59
Hartnup disease
Amino acid transport defect
| Pellagra-like
60
Blue diaper syndrome
Tryptophan transport defect
61
Lowe syndrome
Lysine and arginine transport defect
| Devo delay, cataracts, rickets
62
Acrodermatitis enteripathica
Zinc transport deficiency
Rash
Diarrhea
Ftt
63
Proteus syndrome
```
Hamartomatous polyps
Hemihypertrophy
Extremity gigantism
Angiomas
Pigmented nevi
```
64
Peutz Jeghers syndrome
Hamartomatous polyps
Mucocutaneous hyperpigmentation
Increase risk of cancer (breast, cervical, ovary, testicle, pancreas)
65
Shwachman Diamond syndrome
Pancreatic insufficiency
skeletal abnormalities
Neutropenia
66
Johanson Blizzard
```
Pancreatic insufficiency
Nostril hypoplasia/agenesis
Cardiac defects
Deafness
Hair issues
Gu defects
Devo delay
```
67
Alpha1 antitrypsin deficiency
Infantile jaundice
| Emphysema in young adults
68
Wilson disease
```
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
Kabuki syndrome
```
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
Friedrich Ataxia
hypetrophic cardiomyopathy and conduction defects
ataxia
lower motor neuron issues (periph weakness, absent tendon reflexes)
high-arched feet
scoliosis
vision/hearing impairment
71
Ataxia-Telangiectasia
ataxia, chorea
myoclonus, neuropathy
oculomotor apraxia
immue dysfunction
72
Rubenstein Taybi syndrome
broad thumbs
| cryptorchidism
73
Neurofibromatosis type 2
Acoustic neuromas (aka vestibular schwannomas)
Retinal hamartomas
Meningiomas
Cranial/peripheral nerve schwannomas
74
Von Hippel lindau
Hemangioblastomas esp in brain, spinal cord, retina
| Pheochromocytoma
