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Genetics, Metabolic Flashcards

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1
Q

Trisomy 18 Cardiac Defect

A

VSD

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2
Q

Trisomy 18 Features

A

Edward Syndrome: Rocker bottom feet, overlapping fingers, VSD

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3
Q

Trisomy 13 Features

A

Patau Syndrome: Midline Defects: clefts, postaxial polydactyly, holoprosencephaly, clenched hands

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4
Q

Single Nails, think

A

Apert Syndrome

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5
Q

Achondroplasia features

A

short stature, rhizomelic shortening
trident hands
macrocephaly

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6
Q

Achrondraplasia inheritance

A

AD, FGFR3

increased with older paternal age

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7
Q

Algaille Cardiac features

A

Pulmonary Stenosis or TOF

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8
Q

Algaille Inheritance

A

chromosome 20 deletion, JAG1 gene

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9
Q

BOR syndrome stands for

A

brachia-oto-renal syndrome

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10
Q

BOR syndrome features

A

brachial clefts/fistulas
preauricular pits
hearing loss
renal dysplasia

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11
Q

Prader Willi Features

A

hypotonia at birth
small hands and feets, with obesity
small testes

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12
Q

Complications of Achrondroplasia

A

serous OM
motor delays
spinal stenosis
cord compression

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13
Q

Infantile Spasms associated with what syndrome

A

Tuberous Sclerosis

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14
Q

Wrinkled Palms and soles, think

A

EDS

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15
Q

Treacher Collins Syndrome Features

A

micrognathia (madnibular and maxillary hypoplasia)

ear malformations

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16
Q

Fragile X Syndrome

A

most common inherited ID syndrome

things are large: long face, large ears, large hands and feet, macroorchidism after puberty

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17
Q

Myotonic Dystrophy Genetics

A

AD
CTG repeat
anticipation, more severe when passed from mother

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18
Q

Myotonic Dystrophy Features

A

progressive weakness and wasting; facial and jaw muscles

shake your hand, but can’t let go

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19
Q

Cornelia De Lange Syndrome, Features

A

syndactyly of toes
microcephaly, IUGR,
long eyelashes & hirsutism

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20
Q

Tuberous Sclerosis Genetics

A

AD

TSC1 or 2

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21
Q

Tuberous Sclerosis Skin Findings

A

Ash leaf spots: hypopigmented macules

Shagreen Patches: oval shaped nevoid plaque on trunk or lower back

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22
Q

Tuberous Sclerosis other features

A

cortical tubers
renal angiomyolipomas or renal cysts
PCKD
rhabdomyomas

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23
Q

Wardenburg Syndrome

A

albinism, white forelock, graying
cleft lip/palate
cochlear deafness

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24
Q

NF 1 Features

A

cafe au lait, freckling, neurofibromas
optic gliomas, Lisch nodules
sphenoid dysplasia

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25
NF 2 Features
bilateral vestibular schwannomas/acoustic neuromas | lens abnormalities
26
Proteus Syndrome
macrodactylyl soft tissue hypertrophy hemihpyertrophy accelerated growth
27
Cleidocranial dysostosis
brachycephaly, frontal bossing wormian bones (abnormal intrasutural bones) supranumeray teeth
28
GI diseases associated with down syndrome
hirschsprung and duodenal atresia
29
OI & Blue Sclera
Type I and Type 3 (but lighten)
30
OI & Type 4
white sclera milder tibial bowing
31
OI Type 2
most severe, death in the newborn period due to respiratory insufficiency
32
WAGR is absence of which genes
WT1 (Wilms) | PAX6
33
multilocular cystic mass in nuchal region
think cystic hygroma
34
Crowe Sign
freckles in axilla, NF
35
Sturge Weber Syndrome Features
Port-Wine Stain in V1 distribution glaucoma leptomeningeal angiomatosis --> seizures
36
Ghent Criteria for Marfans
ectopic lens aortic dilation or dissection family history
37
Brushfield Spots
normal or associated with trisomy 21 | ring appearance or "speckled irises"
38
lower eyelid absents, think
Treacher Collins
39
NF Type 1 CNS findings
focal areas of T2 weighted intensity
40
Stickler Syndrome
Pierre Robin Sequence
41
Difference Between Marfans and Homocystinuria
Learning Difficulities
42
omphalocele associated with what trisomy
13
43
Propionic Acidemia - what it is
defieicny of propionyl-CoA carboxylase which oxidizes VoMIT (valine, methionine, isoleucine, threonine) - gets get sick and vomit (ketoacidosis w or w/o hyperammonmina)
44
Propionic Acidemia Complictions
malnutrition, FTT, recurrent infections, cardiomyopathy, pancreatitis
45
MPS - Type 1
Hurler Syndrome, AR coarsened facial features + corneal clouding macrocephaly, deafness atlantoaxial sublaxation
46
MPS - Type 2
Hunter Syndrome, X-linked | No corneal clouding
47
Type 1 Glycogen Storage Disease
von Gierke Disease deficit of glucose-6-phosphatase doll like faces with fat cheeks
48
Type 2 Glycogen Storage Disease
Pompe Disease, however lysosomal storage disease deficiency of lysosomal acid alpha1-4-glucosidase infantile, juvenile and adult forms
49
Type 5 Glycogen Storage Disease
McArdle Disease deficiency of muscle phospharylase rhabdo after exercise, often 20s-30s
50
deficit of glucose-6-phosphatase
T1 GSD/von Gierke Disease
51
deficiency of lysosomal acid alpha1-4-glucosidase
Pompe Disease/GSD T2
52
Infantile Pompe Disease
cardiomegaly, hypotonia and death before 1 year | HCM
53
deficiency of muscle phospharylase
McArdle Disease, GSD T5
54
Most common lysosomal storage disease?
Gaucher Syndrome
55
Types of Gaucher Disease
Type 1 - most common, Ashkenzai Jews (no CNS) Type 2 - Acute Neuronopathy (CNS) Type 3 - Subacute neuronopathy (CNS)
56
deficiency of lysosomal glucocerebrosidase
Gaucher Disease
57
Type 1 Gaucher Disease Presentation
splenomegaly, abdominal protruberance --> thrombocytopenia | Growing pains
58
Galactokinase Deficiency presentations
cataracts (nothing else!)
59
Triad of carboxylase deficiency (biotinidase or holocarboxylase sythentase deficiency)
encephalopathy alopecia skin rash
60
Niemann-Pick Disease Deficiency of
A, B - spingomyelinase (lysosomal storage) | C - buildup of GM2 gangliosidosis / cholesterol accumulation (not lysosomal storage!)
61
Niemann Pick C Clinical Presentation
3-5 years with poot school performance and impaired motor skills (ataxia) supranuclear vertical-gaze palsy/dolls eye reflex preserved C's; cholesterol, childhood alzheimers (dementia), Can't C Up and Down (vertical gaze palsy)
62
PKU - Genetics
AR | phenylalanine cannot be converted to tyrosine
63
PKU - Symptoms/Presentation
intellectual disabsility vomitting in childhood mousy or wolflike odor fair haired, fair skinned
64
Maternal PKU
presents similar to FAS
65
3 Branched Chain Amino Acids
Valine, leucine, isoleucine
66
odor of mousy/wolf-like
PKU
67
odor of sweaty feet
Isovaleric Acidemia
68
Leesch-Nyhan Syndrome
X-linked HGPRT deficiency | FTT, self-mutilation
69
MCAD symptoms
first 2 years of life: fasting induced lethargy and hypoglycemia, arrythmias evlevated C6 and C8 esters
70
VCLAD Deficiency
infancy: arrhythamis, CM, death | C14-18 esters
71
LCHAD Deficiency
cholestatlic liver disease | retinopathy with hypopigementation
72
Galactosemia at risk for what infection
E coli sepsis
73
Galactosemia is a deficiency of
GALT, galactose can't be metabolized
74
Galactoasemia presentation
first few days of life with jaundice, HSM, vomiting, seizures Cataracts, vitreous hemorrhage
75
Kearns-Sayre and Chronic Progressive External Ophthalmoplegia (CPEO) Syndrome
ptosis ophthalmoplegia ragged-red fiber myopathy
76
Fabry Disease
``` Febrile episodes, foam cells Angiokeratomas, alpha galactosidase Burning pain in hands and feet Renal Failure YX, male, X-linked CV disease ```
77
Tay Sachs Genetics
AR, mutation in HEXA gene distruption of enzyme B-hexoasminadase A build up of GM2 gandlioside
78
Tay Sachs Infantile Form presentation
first few months of life enhanced startle reflex cherry-red spot progressive loss of motor skills
79
Sanfilippo Syndrome
MPS Type 3 | severe CNS involvement
80
sweet urine smell
MSUD
81
MSUP genetics
defect in deoxycarboxylation of ketoacids | HAGMA and increased BCAA
82
MSUD presentation
early in infancy, quickly declines with death in 2-4 weeks | sweet smell
83
Homocystinuria characteristics
marfinoid habitus downwards lens dislocation increased risk of thromboembolism
84
Homocytinuria treatment
pydrixodine
85
Urea cycle disorders present with
elevated ammonia, low BUN, respiratory alkalosis
86
Glutaric Acidemia Type I
subdural hematomas and retinal hemorraghes (looks like child abuse)
87
Communicating Hydrocephalus common in
Hunter Syndrome
88
Finding of L-isoalloleucine
MSUD
89
Tyrosinemia
accumulation of succinylacetone Rickets, RTA Renal and Liver Failure without hypoglycemia
90
OTS (ornithine transcarbamylase def) versus CPS (carbamoyl phosphate synthetase 1)
Orotic acid HIGH in OTC | low in CPS
91
Hunter Syndrome complication later in life
cardiac
92
ADHD with hyperpigmentation, think
adrenaleukodystrophy (very long chain fatty acid)
93
Glycogen Storage Disease Mnemonic
``` Villanous President Called and Molested Here 1 Von Gierke 2 Pompe 3 Cori 4 Andersone 5 McArdle 6 Hers ```

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