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RC Study Cards > Syndromes > Flashcards

Syndromes Flashcards

1
Q

T21 cardiac defects

A

AVSD*, VSD, pulmonary hypertension

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2
Q

ear problems T21

A

Small low set ears
congenital hearing loss
AOM
Stenotic ear canals

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3
Q

GI complications T21

A

Duodenal atresia, anorectal stenosis, GERD, Celiac, Hirschprungs

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4
Q

endo complications T21

A

Congenital hypothyroidism
Short stature
Diabetes

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5
Q

Heme complications T21

A 
Transient myeloproliferative disorder
leukemia
polycythemia
iron deficiency
immunodeficiency
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6
Q

Genetics of Edwards Syndrome

A

T18

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7
Q

Head and neck morphology T18

A 
prominent occiput
narrow bifrontal diameter
low set. malformed ears
short palpebral fissures
small oral opening
narrow palatal arch
micrognathia
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8
Q

Cardiac anomalies T18

A

VSD, PDA

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9
Q

GU complications T18

A

Cryptorchidism

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10
Q

MSK complications T18

A

Clenched hand
Overlapping fingers
Nail hypoplasia
Rocker-bottom feet

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11
Q

Genetics of Patau Syndrome

A

T13

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12
Q

Cardinal features of Patau Syndrome

A

holoprosencephaly

eye, nose, lip defects

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13
Q

Head abnormalities Patau

A 
microcephaly
wide sagittal suture
microphthalmia
coloboma
retinal dysplasia
cleft lip/palate
deafness
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14
Q

Heart anomalies Patau

A

VSD
PDA
ASD

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15
Q

Umbilical anomally Patau

A

single umbilical artery

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16
Q

GU anomalies patau

A

cryptorchidism

bicornate uterus

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17
Q

Derm & Skin manifestations Patau

A

polydactyly
capillary hemangiomata
loose neck skin

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18
Q

Marfans - inheritance pattern

A

autosomal dominant or sporadic

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19
Q

major features of Marfans

A

Arachnodactyly with hyperextensibility, overgrowth of long bones, ectopia lentis, aortic dilatation

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20
Q

Marfans: upper:lower segment & span-height ratio

A

upper:lower < 0.85

Span-height > 1.05

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21
Q

CVS complications Marfans

A

*Dilation of the ascending aorta
MVP
Risk of dilated cardiomyopathy

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22
Q

Investigations/Screening needed for Marfans

A 
Echo
Ophtho
Genetics
Cardio - ? beta blocker
Ortho
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23
Q

Activity restriction Marfans

A

NO strenuous PA, no competitive sports, no weight lifting

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24
Q

Inheritance Osteogenesis Imperfecta

A

Autosomal Dominant

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25
Q

Xray findings - Osteogenesis Imperfecta

A 
Codfish vertebrae (compressions)
Wormian bones (small irregular bones in skull)
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26
Q

CNS complication OI

A

Basilar invagination - headaches, weakness, ataxia

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27
Q

Describe dentinogenesis imperfecta

A

hypoplastic, transparent, amberbrown coloured teeth. late erupting - usually primary teeth

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28
Q

CVS complications - OI

A

Aortic valve disease, mitral prolapse

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29
Q

GI risks OI

A

Umbilical & inguinal hernias

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30
Q

GU risk OI

A

hypercalciuria

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31
Q

Genetics Turner Syndrome

A

45X

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32
Q

Classic findings Turners

A 
Short
broad chest
wide spaced nipples
congenital lymphedema
bicuspid aortic valve
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33
Q

CVS complications Turners

A 
bicuspid AV
Coarct
MVP
Aortic dissection
long QT
HTN
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34
Q

H&N anomalies Turners

A 
prominent auricles
narrow maxilla
small mandible
high palate
low posterior hairline
short/webbed neck
hypertelorism
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35
Q

GU complications Turners

A

ovarian dysgenesis - primary amenorrhea

horseshoe kidney

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36
Q

MSK anomalies Turners

A

cubitus valgus, short 4th metacarpal/metatarsal

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37
Q

Endo anomalies Turners

A 
obesity
insulin resistance
LE elevation
thyroid dysfunction
celiac disease
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38
Q

Genetics Klinefelter’s

A

47XXY

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39
Q

Classic features Klinefelters

A

infertility
gynecomastia
tall male with androgen deficiency
primary hypogonadism - small firm testes

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40
Q

Inheritance Noonan Syndrome

A

Autosomal dominant

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41
Q

Classic features Noonan

A

big head with small face and big forehead, widespaced eyes
low-set posteriorly rotated ears low posterior hairline, lacks expression
short stature
chest deformity
CHD (PVS)

42
Q

CVS complications Noonan

A

PVS*
ASD
HCM

43
Q

GI complications Noonan

A

poor feeding

HSM

44
Q

GU complications Noonans

A

delayed puberty
cryptorchidism
solitary kidney

45
Q

MSK manifestations Noonan

A

cubitus valgus
club foot
vertebral/rib anomalies
scoliosis, kyphosis

46
Q

Heme complications Noonans

A

thrombocytopenia
risk of leukemia, MDS
peripheral lymphedema

47
Q

Williams Syndrome

A

Bottom whos not that smart but has a cocktail personality and elfin face. likes to drink white russians. he’s SUPER friendly (SVAS)
- HTN

48
Q

Major features of DiGeorge Syndrome

A 
Cardiac abnormality
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism
49
Q

Inheritance DiGeorge

A

de novo or autosomal dominant

50
Q

Facial features DiGeorge

A 
allergic shiners
mandibular hypoplasia
long face
microcephaly
cleft lip/palate
51
Q

CVS anomalies di george

A 
*TOF
VSD
R sided aortic arch
Truncus arteriosus
intrrupted aortic arch
52
Q

What does CHARGE syndrome stand for?

A 
Coloboma
Heart defect
Atresia (choanal)
Retardation of growth and development
GU anomalies
Ear anomalies
53
Q

CNS complications CHARGE

A

sensorineural hearing loss

visual impairment

54
Q

GI complication CHARGE

A

Esophageal atresia

55
Q

How to diagnose FRAGILE X

A

FRM1 gene molecular testing for CGG repeats

56
Q

CNS complications Fragile X

A

developmental delay, ASD

Seizures, hypotonia

57
Q

Facial/head features of Fragile X

A

prominent forehead & jaw
long, narrow face
protuberant ears
high arched palate

58
Q

GU complication Fragile X

A

macro-orchidism

risk of premature ovarian failure

59
Q

MSK complications Fragile X

A 
joint hypermobility
pes planus
scoliosis
club foot
congenital hip dysplasia
60
Q

Genetics of Angelmans

A

lack of expression of maternal chromosome

61
Q

DIagnostic study Angelmans

A

microarray

methylation studies

62
Q

Angelman syndrome features

A 
hypotonia
seizures
ataxia
inappropriate laughter
severe intellectual disability
fair hair and skin
63
Q

Genetics of Prader Willi

A

lack of expression of paternal chromosome

64
Q

General features of Prader Willi

A

short stature
FTT in infancy then obesity with hyperphagia
hypotonia
developmental and behavioural issues

65
Q

H&N features Prader-Willi

A

Myopia, hyperopia
thin upper lip with small mouth and downturned corners
enamel hypoplasia

66
Q

GU complications Prader Willi

A

small penis

cryptorchidism

67
Q

MSK complications Prader Willi

A 
osteoporosis
scoliosis
clinodactyly
hypopigmented skin/hair
small hands/feet
68
Q

Endo complications Prader Willi

A

hypothalamic insufficiency
hyperinsulinemia
metabolic syndrome

69
Q

fetal features of prader willi

A

breech
decreased activity
polyhydramnios

70
Q

Sturge webber inheritance

A

sporadic

71
Q

sturge-weber features

A

port wine stain
leptomeningeal angiomatosis
seizures, strokes, glaucoma

72
Q

McCune-Albright features

A

Cafe au lait macules
peripheral precocious puberty
fibrous dysplasia

risk of cushing, hyperthyroid, hyperprolactinemia, rickets (phosphaturia)

73
Q

Genetics Russell Silver

A

maternal uniparental disomy of chromosome 7

74
Q

Russell Silver features

A 
short stature
hemihypertrophy
triangular facies
5th finger clinodactyly
microcephaly
75
Q

Beckwith-Wiedeman features

A 
macrosomia - hemihypertrophy
macroglossia
cardiomegaly
omphalocoele
hypoglycemia
76
Q

BW high risk tumours

A

Wilms
hepatoblastoma
neuroblastoma
adrenocortical carcinoma

77
Q

Alagilles genetics

A

autosomal dominant

78
Q

Alagilles core issue

A

cholestasis from intrahepatic bile duct paucity

79
Q

Alagilles issues

A 
short stature
pancreatic insufficiency
tubulointerstitial nephropathy
defective spermatogenesis
hemivertebrae/butterfly vertebrae
small pointed chin with broad forehead
80
Q

What does WAGR stand for?

A

Wilms tumour
Aniridia
Genital abnormality (cryptorchidism)
Retardation

81
Q

Goldenhaar syndrome

A

oculoauriculovertebral syndrome

82
Q

Inheritance Wiscott-Aldrich

A

Xlinked recessive

83
Q

Features of Wiscott Aldrich

A

Atopic Dermatitis
Thrombocytopenia
Immunodeficiency

84
Q

Lab findings Wiscott-Aldrich

A

Low IgM
High IgA & IgE
normal IgG

85
Q

Features of Ataxia-telangiectasia

A

Ataxia
oculocutaneous telangiectasias
chronic sinopulmonary disease (b cell deficiency)
high chance of malignancy & leukemia

86
Q

Facial features of fetal alcohol syndrome

A 
short palpebral fissures
epicanthal folds
maxillary hypoplasia
micrognathia
smooth philtrum & upper lip
87
Q

heart defects FAS

A

Septal defects

88
Q

Genetics of Rett Syndrome

A

mutation in MeCP2

89
Q

Features of Rett Syndrome

A 
developmental regression
ataxia
fine hand tremor/hand wringing
ASD
Seizures
cardiac arrhythmias
apneas and sighing respirations
90
Q

What does PHACE syndrome stand for?

A 
Posterior fossa abnormalities
Hemangiomas
Arterial abnormalities
Cardiac abnormalities
Eye abnormalities
91
Q

Septo-optic dysplasia risk factors

A

maternal diabetes
fetal alcohol syndrome
maternal drug use
anticonvulsants

92
Q

Septo-optic dysplasia CNS manifestations

A

Absent septum pellucidum
agenesis of the corpus callosum
anterior pituitary hormone absence

93
Q

Waardenburg syndrome inheritance

A

autosomal dominant

94
Q

Waardenburg syndrome features

A

abnormal distribution of melanocytes
heterochromia
congenital deafness

95
Q

Features of Pierre-Robin sequence

A

micrognathia
retrognathia
cleft palate

96
Q

Syndromes associated with Pierre Robin

A

DiGeorge

Stickler syndrome

97
Q

Stickler syndrome inheritance

A

autosomal dominant

98
Q

Stickler syndrome features

A

pierre robin +

severe myopia, hearing loss and osteoarthritis

99
Q

Treacher Collins Syndrome inheritance

A

autosomal dominant

100
Q

Features of Treacher Collins

A

malar & mandibular hypoplasia
lower lid coloboma
absence of lower eyelashes
malformation of auricles/external ear canal
conductive deafness
incompetent soft palate
projection of scalp hair onto lateral cheek

101
Q

Charcot-Marie-Tooth inheritance

A

autosomal dominant

102
Q

Features Charcot-Marie-Tooth

A

progressive, symmetric, distal weakness *foot drop
contractures of hands and feet
loss of distal sensation

RC Study Cards (23 decks)

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