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Board Review 2024 > Misc conditions > Flashcards

Misc conditions Flashcards

1
Q

Describe the features of Simpson-Golabi-Behmel syndrome

A

GPC3, XL
Overgrowth, extra nipples, macroglossia, coarse
facial features, polydactyly, diaphragmatic hernia,
10% have childhood tumors such as Wilm’s tumor,
normal intelligence to severe ID
Has some overlapping features with Beckwith-
Wiedemann syndrome including overgrowth,
macroglossia, umbilical hernia, organomegaly,
and embryonal tumors.

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2
Q

Describe the features of diastrophic dysplasia

A

SLC26A2, AR
hitchhiker thumbs, cystic ear swelling, short limbs, cleft palate

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3
Q

Describe the features of Hypophosphatasia

A

ALPL, mostly AR but some AD
Hypomineralization of the bone and/or teeth
premature tooth loss

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4
Q

Describe the features of Denys Drash and Frasier syndrome

A

AD, WT1
XY have ambiguous genitalia and streak gonads
kidney dz, Wilms tumor

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5
Q

Describe the features of Bardet Biedl syndrome

A

many genes, AR
RP
obesity
polydactyly
males w hypogonadism and infertile

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6
Q

Describe the features of Septo-Oto-Dysplasia

A
  1. underdevelopment of the optic nerves and impaired vision
  2. abnormal development of the corpus callosum and neurological problems
  3. pituitary hypoplasia leading to hormone deficiency and genital abnormalities
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7
Q

Describe the features of Stickler syndrome

A

multiple genes, AD and AR
myopia, cataracts, retinal detachment
hearing loss
cleft palate, Pierre robin sequence

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8
Q

Describe the features of Usher syndrome

A

MYO7A, USH2A; AR
Hearing loss
RP

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9
Q

Describe the features of Alport syndrome

A

kidney dz (blood in urine), hearing loss, eye abnormalities that seldom leads to vision loss

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10
Q

Describe the features of nonsyndromic hearing loss and deafness

A

GJB2/6 (Account for 50% of ppl that fit this description), AR
Congenital, non-progressive, mild to profound SNHL

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11
Q

Describe the features of Pendred syndrome

A

SLC26A4, AR
Enlarged vestibular aqueduct-characteristic feature
severe to profound SNHL
balance issues
goiter (enlarged thyroid gland)

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12
Q

Describe the features of Meckel-Gruber syndrome

A

AR
polycystic kidneys, occipital encephalocele, polydactyly

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13
Q

Describe the features of orofacialdigital syndrome

A

OFD1, XLD (male lethal), AR
oral anomalies, dysmorphic facial features, and fused, extra short or curved fingers

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14
Q

Describe the features of Cockayne syndrome

A

ERCC6/8, AR
sensitivity to sunlight, microcephaly, short, hearing and vision loss

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15
Q

Describe the features of Werner syndrome

A

WRN, AR
rapid appearance of features associated w normal aging starting in the 20s: graying and loss of hair, hoarseness, cataracts

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16
Q

Describe the features of Aarskog syndrome

A

FGD1, XLR
Shawl scrotum, multiple congenital anomalies

17
Q

Describe the features of Aicardi syndrome

A

unknown genetic cause, occurs almost always in females

agenesis of the corpus callosum and other brain abnormalities, seizures, eye abnormalities (coloboma, microphthalmia)

18
Q

Describe the features of Alagille syndrome

A

JAG1, AD
Butterfly shaped vertebrae, abnormal bile ducts, heart defects

19
Q

Describe the features of Coffin-Lowry

A

RPS6KA3, XLR
Collapse when excited or startled, soft hands w short tapered fingers, ID, DD

20
Q

Describe the features of Fryns syndrome

A

no known genetic cause, AR
congenital diaphragmatic hernia, underdeveloped fingers (short w small/absent nails)

21
Q

Describe the features of Familial dysautonomia

A

ELP1/IKBAP, AR
Pain insensitivity, unstable body temp and BP, absence of tears, feeding issues
high carrier frequency in AJ (1 in 30)

22
Q

Describe the features of FMF

A

MEV, AR
Recurrent episodes of painful inflammation accompanied by fever, rash, or headache, can lead to kidney damage
higher carrier frequency in those in the Mediterranean region

23
Q

Describe the features of HHT

A

ACVRL1, ENG, SMAD4; AD
Arteriovenous malformations (AVMs): blood typically travels from arteries to capillaries to veins. In HHT some arteries flow directly into veins
When AVMs occur near the surface of the skin, they are red and visible and called telangiectasias
Blood enters veins at higher pressure resulting in nosebleeds or hemorrhages in brain, liver, lungs or other organs

24
Q

Describe the features of Holt Oram

A

TBX5, AD
Heart hand syndrome, think heart arm
skeletal abnormalities of the hands/arms, heart defect

25
Q

Describe the features of Incontinentia Pigmenti

A

IKBKG, XLD (male lethal)
characteristic skin abnormalities that follow a pattern:
1. blistering rash
2. wart-like growths
3. hyperpigmentation
4. hypopigmentation
alopecia, sparse eyelashes, dental abnormalities, eye abnormalities, pitted fingernails

26
Q

Describe the features associated w Kabuki syndrome

A

KMT2D, AD
ID, DD, seizures, microcephaly, short stature, skeletal abnormalities

27
Q

Describe the features of McCune Albright

A

somatic, de novo AD
scar like tissue in the bones
cafe au laits w irregular borders similar to the coast of Maine
early puberty in girls, have menstrual bleeding by 2yo
excess hormone from thyroid and pituitary glands
thought that having a variant in every cell is incompatible w life

28
Q

Describe the features of progeria

A

AD, LMNA
rapid aging, characteristic facial features, hardening of the arteries

29
Q

Describe the features of Sturge weber syndrome

A

port wine stain
GNAQ somatic mutation

30
Q

Describe the features of Rubenstein Taybi

A

CREBBP, EP300, AD
ID, broad thumbs and big toes, abnormalities of the eyes, heart, and kidneys

31
Q

Describe the features of TAR

A

AR, RBMA8
thrombocytopenia w absent radius syndrome
Thrombocytopenia: prevents blood clotting due to low platelets
absent radius bone and other hand/arm anomalies

32
Q

Describe the features of Spinocerebellar ataxia

A

Typically AD, main gene is ATXN; type 1 due to CAG trinucleotide repeats in ATXN1 and ATXN7
progressive cerebellar ataxia; uncoordinated muscle movement due to cerebellum issues; less coordination of eyes, hands, speech, shaky gait
onset @30-40s
lifespan dependent on when symptoms appear

Board Review 2024 (29 decks)

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