100 syndromes

Question 1

Allagile syndrome genes

Answer 1

Jak 2, NOTCH 1

Question 2

Allagile syndrome liver issue?

Answer 2

cholestasis, requires transplant

Question 3

Brugada syndrome gene? function? in 15-30% of cases

Answer 3

SCN5A - 15-30%, NA channel protein

Question 4

Brugada syndrome inheritance?

Answer 4

AD except KCNE5 -XLR– K channel

Question 5

Brugada who gets more men or women?

Answer 5

men >women 9:1

Question 6

EKG in Brugada? how common is there EKG abn?

Answer 6

polymorpgic VT v fib, but only 30% have abn

Question 7

death in Brugada?

Answer 7

Asain nocturnal death, sudden dealth by age 40, death during febrile illness

Question 8

Brugada treatment cardiac>

Answer 8

pacer

Question 9

15 yr old male, short, hypertrophic cardiomyopathy, coarse facial features,

Answer 9

RASoptahies cardiofaciocutaneous syndromes, costello, noonan, noonan with multiple lentigines

Question 10

cardio facio cutaneous syndrome gene in 75%?

Answer 10

BRAF in 75%

Question 11

cardio facio cutaneous disease mechanism

Answer 11

gain of function map K

Question 12

cardio facio cutaenoius cardiac abn?

Answer 12

pulm stenosis, septal defects, hypertrophic cardiomyopathy

Question 13

cardio facio cutaenoius skin?

Answer 13

xerosis, palmpplantar hyperkeeratosis, ichythosis, skin lesions on the eye brows

Question 14

cardio facio cutaenoius face ?

Answer 14

macrocephaly, downsplanting fissures, ptosis, cupid’s bow of upper lip, high arches palate, curly sparse hair

Question 15

cardio facio cutaenoius skeletal/ ocular

Answer 15

short neck, pectus deformities, scoliosis, pes planus, ocular= strabismus, nystagmus, optic nerve hyperplasia

Question 16

cardio facio cutaenoius cancer?

Answer 16

blood cancers and testes from crytoprchdiism

Question 17

Costello Syndrome most common gene?

Answer 17

HRAS- gain of function 11p15.5 inheritance de novo- missese

Question 18

What is different about costello compared to other RASopathies?

Answer 18

HRAS is only a part of costello
papilloma around the mouth
deep palmar creases/ perianal region

Question 19

deep palmar creases give 2 conditions?

Answer 19

trisomy 18 mosacism, costello

Question 20

costello syndrome cardiac?

Answer 20

same as cfc- PULhtn hypertrophic cardiomyopathy

Question 21

61 year old with hx of nose bleeding and hemorhaggic stroke, vascular lesions on the face- pinpoints:

Answer 21

herditary hemorhaggic telangectasia

Question 22

HHT- 4 genes?

Answer 22

ACVRL1 ENG, SMAD4

Question 23

smad4 is also involved in

Answer 23

juvelile polyposis syndrome, and HHT

Question 24

genetic mechanism in HHT?

Answer 24

haplo-insufficiency

Question 25

HHT vascular findings?

Answer 25

AVM, telangectasias,

Question 26

Diagbnosing HHT?

Answer 26

need 3/4: 1. nosebleeds spontaneous recurrent,2. mucocutaneous telangectasias, visceral AVM- lings, brain liver, 4. FH

Question 27

which gene is most common for HHT?

Answer 27

ENG

Question 28

management for HHT?

Answer 28

stool culture for blood, cbc for polycythemia, contrast echo to find pulm AVM- bubble study, hear MRI for cerebral AVM, US for hepatic AVM

Question 29

what is the most important screening test to order for HHT?

Answer 29

echo for pulm AVM, if its > 3.0mm, call have balloon placed

Question 30

9 year old boy with hand anomalies, CHD, absent radius and thumb

Answer 30

HOLT orom

Question 31

holt orom gene location?

Answer 31

TBX5, SALL4 , t box transcription factor, TBX5- AD 85% de novo

Question 32

What is TBX5 and what condtion?

Answer 32

transcription factor with cardiogenesis and limb development

Question 33

which agent taken orally can result in the same physical features of holt orom?

Answer 33

thalidomide

Question 34

100% of patients with holt orom have?

Answer 34

100% have carpal bone abnormalities,

Question 35

most common cardiac findings in holt orom? What percent of patients with holt orom have CHD?

Answer 35

ASD, VSD, arrhythmia, 75% of ppl have CHD

Question 36

Kabuki syndrome genes?

Answer 36

KMT2D 66% AD,,,KDM6A- x. LINKED- encodes proteins involved in methylation, lysine specific deemthylase 6a

Question 37

how to dx kabuki?

Answer 37

gene sequencing for the 2 genes, del dup, or can consider methylation study

Question 38

hands in kabuki?

Answer 38

brachydactyly, clinodactyly of fifth digits, persistant fetal finger pads

Question 39

ears eyes and mouth in kabukio?

Answer 39

ptosis, ear pits, cleft lip

Question 40

kabuki immunity?

Answer 40

hypogammaglobulinemia and IGA deficiency , autoimmune conditisns like vitiligo, immune thrombocytopenia, hemolytic anemia

Question 41

young children with autoimmune and developmental delay should make you think of?

Answer 41

kabuki

Question 42

ears in kabuki?

Answer 42

large prominant or cupped ears

Question 43

what medication can be given in kabuki?

Answer 43

GH

Question 44

holoprosencephaly and feet abn? 2-3 toe syndactyly

Answer 44

smith lelmi opitz

Question 45

gene in smith lelmi opitz

Answer 45

DHCR7- A recessive, protein is 7-DHC, reductase- in ch 11

Question 46

diagnsosis in SMLO

Answer 46

elevated 7 dehydrocholesterol and 8-dehydrocholesterol, or gene sequencing for DHCR7 or del dup

Question 47

can you use cholesterol level in smlo since there is a problem with cholesterol?

Answer 47

no can be normal

Question 48

pregnant women with SMOL will have?

Answer 48

low estriol during pregnancy since cholesterol is abn

Question 49

what percent of SMOL have 2-3 syndactyly?

Answer 49

99%

Question 50

SMOL nose?

Answer 50

short nose and anteverted nares

Question 51

proteins in Allagele

Answer 51

jagged 1 neurogenic locus notch homolog protein 2- jag1 is truncated protein product rendering in unable to bind to the cell membrae resultin in haploinusfficency