Brainscape's Knowledge GenomeTM

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


See full index

AHG2 > Syndromes: other > Flashcards

Syndromes: other Flashcards

1
Q

Supervalvular aortic stenosis, pulmonic stenosis, hyperCa, friendly/anxious personality, stellate blue eyes, round cheeks, wide mouth

A

Williams syndrome, 7q11.23 deletion

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

HLHS/LV noncompaction, platelet dysfunction, immunodeficiency, ID, flat nasal root w/hypertelorism, down slanting PF, full brow

A

Jacobsen syndrome, 11q deletion

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

CHD (1/4 with LV noncompaction), structural brain abnormalities w/seizure and severe ID, deep-set eyes, straight eyebrows, thin upper lips, pointed nose

A

1p36 deletion syndrome

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

TOF/septal defects, distal pulmonary stenosis, arterial narrowing elsewhere, cholestasis/liver failure

A

Alagille syndrome: JAG1, NOTCH2

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

“Swiss cheese” atrial septum/common atrium, arrhythmia/heart block, radial ray defects

A

Holt-Oram syndrome: TBX5, SALL4

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

Complex CHD, immunodeficiency, ID, elongated eyes w/lateral eversion, long ears

A

Kabuki syndrome: XL, KMT2D, KDM6A

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

Double-outlet right ventricle, vision/hearing loss risk, GU m malformation, choanal atresia

A

CHARGE syndrome: CHD7

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

PS, HCM, or ASD, pectus, hypertelorism, down slanting PF, low-set ears, short stature

A

Noonan syndrome, AD RAS/MAPK

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

Novel treatment of RASopathies

A

MEK inhibitor - improves HCM, arrhythmia, lymphatic malformation; requires several years of treatment minimum

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

Most common genes causing familial hypertrophic cardiomyopathy

A

MYH7, MYBPC3 (40% each)

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

Most common genes causing familial hypertrophic cardiomyopathy

A

LMNA, MYH7 (up to 8%), TNNT2, SCN5A (up to 4%)

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

Most common genes causing ARVD/C

A

PKP2, DSG2, DSP, DSC2

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

Syndromes associated with cardiomyopathy

A

Rasopathies
BWS (HCM)
Chromosomal
Alstrom (DCM) - w/retinal dystrophy, hearing loss

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

Most common IEMs with CM

A

HCM: Pompe & Mito ~30%
DCM: 35% mito, 25% Barth, 10% carnitine def

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

Neuromuscular causes of CM

A

Friedrich’s ataxia, Duchenne/Becker MD

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

Aniridia gene

A

PAX6 (AD LOF aniridia, AR anophthalmia), WAGR (11p13 gene deletion + 2nd hit in WT1 loss)

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

Corneal clouding

A

MPS I, IV, VI, VII

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

Syndromes a/w cataracts

A

Galactosemia, Lowe, Fabry, myotonic dystrophy

19
Q

Retinal dystrophy: onset in infancy vs after infancy

A

Leber congenital amaurosis (CRX AD, most AR incl RPE65 that has gene therapy) vs retinitis pigmentosa

20
Q

Brain malformations (molar tooth sign, cerebellar vermis hypoplasia), hypotonia, cognitive impairment, congenital retinal dystrophy, polydactyl, renal anomalies

A

Joubert syndrome (AR, 25 genes)

21
Q

Retinitis pigmentosa, hearing loss (aka deaf-blind), +/- poor balance (vestibular defects)

A

Usher syndrome, 9-10 genes “USH”

22
Q

Polydactyly, obesity, cognitive defects, renal disease, post-axial polydactyly, hypogonadism, retinal dystrophy

A

Bardet-Biedl syndrome (AR, 22 genes; triallelic inheritance for a few)

23
Q

Albinism, loss of fovea, oculuar vs oculocutaneous genes

A

Ocular OA1 (XL) vs Oculocutaneous OCA1 (tyrosinase) & OCA2 (P gene, deletion in AAs, hair/nevi darken over time)

24
Q

Albinism + bleeding (platelet dysfunction), pulmonary fibrosis, granulomatous colitis

A

Hermansky-Pudlak: AR, absence of platelet dense bodies, HPS genes 1-8

25
Q

Albinism + ID

A

Angelman/PWS (<1% w/OCA2 loss)

26
Q

“Albinism” (silvery hair) + immunodeficiency (superficial pyoderma), late onset ataxia, peripheral neuropathy, accelerated phase–>HLH

A

Chediak-Higashi: AR, LYST1 (lysosomal trafficking regulator); affects multiple granules incl neutrophils, platelets, melanin

27
Q

Optic nerve hypoplasia, pituitary hypoplasia, midline forebrain defects (absent septum pellucid or corpus callosum)

A

Septo-optic dysplasia, mostly sporadic

28
Q

Epidermolysis bullosa simplex, heals without scarring

A

AD mutations in keratins

29
Q

Junctional epidermolysis bullosa, atrophic scarring

A

Laminin 332 or collagen XVII/BPAg2 (hemidesmosome)

30
Q

Dystrophic epidermolysis bullosa, diffuse & deforming (especially AR form)

A

AD form Collagen VII (anchoring DEJ); AR more severe, a/w anemia, DCM, SCC

31
Q

Variable bullae, photosensitivity, cutaneous atrophy, poikiloderma, pseudosyndactyly, erosion of mucosa, increased SCC risk

A

Kindler syndrome: FERMT1/KIND1 (integrin signaling)

32
Q

Linear blistering + pigmentary changes seizures, ID, microcephaly cataracts, retinal detachment, pegged/missing teeth, alopecia, wiry hair, miscarriage

A

Incontinentia pigmenti: IFBKG aka NEMO (XD, male lethal)

33
Q

4 stages of incontinentia pigment

A

Vesicular, verrucous, hyperpigmented, hypopigmented (no hair in areas)

34
Q

Alopecia, no sweat, frontal bossing, saddle nose, everted lips, hypodontia

A

Hypohidrotic ectodermal dysplasia: most commonly XR w/ectodysplasin A

35
Q

No sweat, hypotrichosis, seborrheic/atopic dermatitis, hypogammaglobulinemia, impaired B cell switch, hyperIgM

A

Hypohidrotic ectodermal dysplasia w/immunodeficiency, XR hypomorphic mutation in IKBKG/NEMO (often in sons of moms with IP)

36
Q

Hypotrichosis, brittle/sparse hair, dystrophic fingernails, palmar hyperkeratosis; normal teeth & eccrine glands

A

Hidrotic ectodermal dysplasia: AD, GJB6 (connexion 30)

37
Q

Hypodontia w/cone-shaped teeth, brittle spooned nails

A

Witkop tooth & nail: AD, MSX1 (TF)

38
Q

Congenital lipomatous overgrowth, vascular malformation, epidermal nevi (wart-like), and spinal/skeletal anomalies incl sandal gap

A

CLOVES: PIK3CA overgrowth

39
Q

Megalencephaly (often w/brain structural Abel), capillary malformation esp. upper lip, frontal bossing, syndactyly, polydactyly, hemihypertrophy

A

Megalencephaly-Capillary malformation, PIK3CA overgrowth

40
Q

Congenital hearing loss w/enlarged vestibular aqueducts, late-onset goiter/hypothyroid

A

Pendred syndrome: SCL26A4 (DFNB4)

41
Q

Congenital hearing loss, long QT syndrome

A

Jervell & Lange-Nielsen syndrome (KCNQ1, KCNE1)

42
Q

Variable onset progressive hearing loss, ovarian dysgenesis, neurological impairment

A

Perrault syndrome (6 genes)

43
Q

Most common 2 genes for nonsyndromic hearing loss

A

GJB2, STRC (stereocillin)

44
Q

White forelock w/early gray hair and hypoplastic blue irides/heterochromia, high wide nasal root, hearing loss

A

Waardenberg type 1

AHG2 (12 decks)

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