Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

RC Study Cards > Syndromes > Flashcards

Syndromes Flashcards

(102 cards)

Start Studying
1
Q

T21 cardiac defects

A

AVSD*, VSD, pulmonary hypertension

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

ear problems T21

A

Small low set ears
congenital hearing loss
AOM
Stenotic ear canals

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

GI complications T21

A

Duodenal atresia, anorectal stenosis, GERD, Celiac, Hirschprungs

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

endo complications T21

A

Congenital hypothyroidism
Short stature
Diabetes

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

Heme complications T21

A 
Transient myeloproliferative disorder
leukemia
polycythemia
iron deficiency
immunodeficiency
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Genetics of Edwards Syndrome

A

T18

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

Cardiac anomalies T18

A

VSD, PDA

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

GU complications T18

A

Cryptorchidism

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

MSK complications T18

A

Clenched hand
Overlapping fingers
Nail hypoplasia
Rocker-bottom feet

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

Genetics of Patau Syndrome

A

T13

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

Cardinal features of Patau Syndrome

A

holoprosencephaly

eye, nose, lip defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Head abnormalities Patau

A 
microcephaly
wide sagittal suture
microphthalmia
coloboma
retinal dysplasia
cleft lip/palate
deafness
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Heart anomalies Patau

A

VSD
PDA
ASD

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

Umbilical anomally Patau

A

single umbilical artery

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

GU anomalies patau

A

cryptorchidism

bicornate uterus

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

Derm & Skin manifestations Patau

A

polydactyly
capillary hemangiomata
loose neck skin

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

Marfans - inheritance pattern

A

autosomal dominant or sporadic

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

major features of Marfans

A

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

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

Marfans: upper:lower segment & span-height ratio

A

upper:lower < 0.85

Span-height > 1.05

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

CVS complications Marfans

A

*Dilation of the ascending aorta
MVP
Risk of dilated cardiomyopathy

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

Investigations/Screening needed for Marfans

A 
Echo
Ophtho
Genetics
Cardio - ? beta blocker
Ortho
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Activity restriction Marfans

A

NO strenuous PA, no competitive sports, no weight lifting

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

Inheritance Osteogenesis Imperfecta

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Xray findings - Osteogenesis Imperfecta
``` Codfish vertebrae (compressions) Wormian bones (small irregular bones in skull) ```
26
CNS complication OI
Basilar invagination - headaches, weakness, ataxia
27
Describe dentinogenesis imperfecta
hypoplastic, transparent, amberbrown coloured teeth. late erupting - usually primary teeth
28
CVS complications - OI
Aortic valve disease, mitral prolapse
29
GI risks OI
Umbilical & inguinal hernias
30
GU risk OI
hypercalciuria
31
Genetics Turner Syndrome
45X
32
Classic findings Turners
``` Short broad chest wide spaced nipples congenital lymphedema bicuspid aortic valve ```
33
CVS complications Turners
``` bicuspid AV Coarct MVP Aortic dissection long QT HTN ```
34
H&N anomalies Turners
``` prominent auricles narrow maxilla small mandible high palate low posterior hairline short/webbed neck hypertelorism ```
35
GU complications Turners
ovarian dysgenesis - primary amenorrhea | horseshoe kidney
36
MSK anomalies Turners
cubitus valgus, short 4th metacarpal/metatarsal
37
Endo anomalies Turners
``` obesity insulin resistance LE elevation thyroid dysfunction celiac disease ```
38
Genetics Klinefelter's
47XXY
39
Classic features Klinefelters
infertility gynecomastia tall male with androgen deficiency primary hypogonadism - small firm testes
40
Inheritance Noonan Syndrome
Autosomal dominant
41
Classic features Noonan
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
CVS complications Noonan
PVS* ASD HCM
43
GI complications Noonan
poor feeding | HSM
44
GU complications Noonans
delayed puberty cryptorchidism solitary kidney
45
MSK manifestations Noonan
cubitus valgus club foot vertebral/rib anomalies scoliosis, kyphosis
46
Heme complications Noonans
thrombocytopenia risk of leukemia, MDS peripheral lymphedema
47
Williams Syndrome
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
Major features of DiGeorge Syndrome
``` Cardiac abnormality Abnormal facies Thymic aplasia Cleft palate Hypocalcemia/Hypoparathyroidism ```
49
Inheritance DiGeorge
de novo or autosomal dominant
50
Facial features DiGeorge
``` allergic shiners mandibular hypoplasia long face microcephaly cleft lip/palate ```
51
CVS anomalies di george
``` *TOF VSD R sided aortic arch Truncus arteriosus intrrupted aortic arch ```
52
What does CHARGE syndrome stand for?
``` Coloboma Heart defect Atresia (choanal) Retardation of growth and development GU anomalies Ear anomalies ```
53
CNS complications CHARGE
sensorineural hearing loss | visual impairment
54
GI complication CHARGE
Esophageal atresia
55
How to diagnose FRAGILE X
FRM1 gene molecular testing for CGG repeats
56
CNS complications Fragile X
developmental delay, ASD | Seizures, hypotonia
57
Facial/head features of Fragile X
prominent forehead & jaw long, narrow face protuberant ears high arched palate
58
GU complication Fragile X
macro-orchidism | risk of premature ovarian failure
59
MSK complications Fragile X
``` joint hypermobility pes planus scoliosis club foot congenital hip dysplasia ```
60
Genetics of Angelmans
lack of expression of maternal chromosome
61
DIagnostic study Angelmans
microarray | methylation studies
62
Angelman syndrome features
``` hypotonia seizures ataxia inappropriate laughter severe intellectual disability fair hair and skin ```
63
Genetics of Prader Willi
lack of expression of paternal chromosome
64
General features of Prader Willi
short stature FTT in infancy then obesity with hyperphagia hypotonia developmental and behavioural issues
65
H&N features Prader-Willi
Myopia, hyperopia thin upper lip with small mouth and downturned corners enamel hypoplasia
66
GU complications Prader Willi
small penis | cryptorchidism
67
MSK complications Prader Willi
``` osteoporosis scoliosis clinodactyly hypopigmented skin/hair small hands/feet ```
68
Endo complications Prader Willi
hypothalamic insufficiency hyperinsulinemia metabolic syndrome
69
fetal features of prader willi
breech decreased activity polyhydramnios
70
Sturge webber inheritance
sporadic
71
sturge-weber features
port wine stain leptomeningeal angiomatosis seizures, strokes, glaucoma
72
McCune-Albright features
Cafe au lait macules peripheral precocious puberty fibrous dysplasia risk of cushing, hyperthyroid, hyperprolactinemia, rickets (phosphaturia)
73
Genetics Russell Silver
maternal uniparental disomy of chromosome 7
74
Russell Silver features
``` short stature hemihypertrophy triangular facies 5th finger clinodactyly microcephaly ```
75
Beckwith-Wiedeman features
``` macrosomia - hemihypertrophy macroglossia cardiomegaly omphalocoele hypoglycemia ```
76
BW high risk tumours
Wilms hepatoblastoma neuroblastoma adrenocortical carcinoma
77
Alagilles genetics
autosomal dominant
78
Alagilles core issue
cholestasis from intrahepatic bile duct paucity
79
Alagilles issues
``` short stature pancreatic insufficiency tubulointerstitial nephropathy defective spermatogenesis hemivertebrae/butterfly vertebrae small pointed chin with broad forehead ```
80
What does WAGR stand for?
Wilms tumour Aniridia Genital abnormality (cryptorchidism) Retardation
81
Goldenhaar syndrome
oculoauriculovertebral syndrome
82
Inheritance Wiscott-Aldrich
Xlinked recessive
83
Features of Wiscott Aldrich
Atopic Dermatitis Thrombocytopenia Immunodeficiency
84
Lab findings Wiscott-Aldrich
Low IgM High IgA & IgE normal IgG
85
Features of Ataxia-telangiectasia
Ataxia oculocutaneous telangiectasias chronic sinopulmonary disease (b cell deficiency) high chance of malignancy & leukemia
86
Facial features of fetal alcohol syndrome
``` short palpebral fissures epicanthal folds maxillary hypoplasia micrognathia smooth philtrum & upper lip ```
87
heart defects FAS
Septal defects
88
Genetics of Rett Syndrome
mutation in MeCP2
89
Features of Rett Syndrome
``` developmental regression ataxia fine hand tremor/hand wringing ASD Seizures cardiac arrhythmias apneas and sighing respirations ```
90
What does PHACE syndrome stand for?
``` Posterior fossa abnormalities Hemangiomas Arterial abnormalities Cardiac abnormalities Eye abnormalities ```
91
Septo-optic dysplasia risk factors
maternal diabetes fetal alcohol syndrome maternal drug use anticonvulsants
92
Septo-optic dysplasia CNS manifestations
Absent septum pellucidum agenesis of the corpus callosum anterior pituitary hormone absence
93
Waardenburg syndrome inheritance
autosomal dominant
94
Waardenburg syndrome features
abnormal distribution of melanocytes heterochromia congenital deafness
95
Features of Pierre-Robin sequence
micrognathia retrognathia cleft palate
96
Syndromes associated with Pierre Robin
DiGeorge | Stickler syndrome
97
Stickler syndrome inheritance
autosomal dominant
98
Stickler syndrome features
pierre robin + | severe myopia, hearing loss and osteoarthritis
99
Treacher Collins Syndrome inheritance
autosomal dominant
100
Features of Treacher Collins
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
Charcot-Marie-Tooth inheritance
autosomal dominant
102
Features Charcot-Marie-Tooth
progressive, symmetric, distal weakness *foot drop contractures of hands and feet loss of distal sensation

RC Study Cards (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions