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Differentials > All differentials > Flashcards

All differentials Flashcards

1
Q

1 gene -> 2 disease

A

FGFR2-Beare Stevenson, Apert, Pfeiffer, Crouzon
FGFR3- Achondroplasia, hypochondroplasia, Thanatophoric, Cruzon with acanthosis nigricans, Muenke, LADD (Lacrimo-auriculo-dental-digital/Levy-Hollister), SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)
COL2A1 Stickler, Spondyloepiphyseal dysplasia congenita, Kneist, Achondrogenesis type 2, hypochondrogenesis
L1CAM- X linked agenesis of corpus callosum, X linked hydrocephalus, MASA (mental retardation, adducted thumbs, shuffling gait, aphasia), X linked spastic paraplegia
DTDST/SLC26A2- Diastrophic dysplasia, atelosteogenesis type 2, achondrogenesis Ib
REQL4- Rothmund-Thompson, Baller-Gerold
Androgen receptor- Kennedy and Androgen insensitivity syndrome
COMP- pseudochondroplasia, muliple epiphyseal dysplasia
SMAD4- Thoracic aortic aneurysm dissection, Juvenile polyposis
PTEN-Cowden, Bananyan-Riley-Ruvalcaba, Proteus-like, PTEN autism
APC- Familial adenomatous polyposis, Gardner and Turcot syndrome
PMP22-Charcot Marie Tooth type 1 (dup), Djerene-Sotos (biallelic), Hereditary neuropathy with liability to pressure palsy (del)
CFTR-Congenital bilateral absence of vas deferens, cystic fibrosis
COL1A1- Caffey, Osteogenesis imperfecta (1-3)
GNAS-Albright Hereditary Osteodystrophy, Pseudopseudohypoparathyroidism, McCune Albright (somatic)
GLI3-Grieg cephalopolysyndactyly, Pallister-Hall
HRAS-Costello and bladder cancer
BRAF- Cardiofaciocutaneous and sporadic colon CA
BRCA2-Hereditary breast and ovarian cancer, Fanconi Anemia
COL4A5 -Alport and spont IVH
WT1-Denys-Drash, Frasier, WAGR (Wilms, aniridia, genitourinary anomalies, growth retardation)
RET-Hirschprung, MEN2a/b
GJB6-Clouston (hyperhidrotic ectodermal dysplasia) and non-syndromic sensorineural hearing loss
MED12-Lujan-Fryns and FG
MYH3-Freeman-Sheldon and Sheldon-Hall
HgB beta chain: beta-thalassemia, sickle cell disease

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2
Q

Many genes ->1 disease

A 
Tuberous Sclerosis
Adult polycystic Kidney
Breast Cancer
Non-syndromic Deafness
Retinitis pigmentosum
Pfeiffer
Noonan
HNPCC/Lynch syndrome
Stickler
Bardet Biedl
Joubert syndrome
Walker-Warburd
Hereditary paraganglioma
Fanconi Anemia
Non-syndromic hirschsprung
Non-syndromic hypertrophic cardiomyopathy
Isolated microcephaly/Seckle syndrome
Hereditary spastic paraplegia
Charcot Marie Tooth syndrome
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3
Q

Abdominal Pain

A

Hereditary Angioedema (swelling syndrome)
hemochromatosis
lipoprotein lipase deficiency (pancreatitis)
Acute Intermittent Porphyria, Tyrosinemia
Adrenal Insufficiency (e.g. XALD-related)
Ehlers danlos IV (arterial dissection/visceral perforation)
Myotonic dystrophy (tight gallbladder sphincter)
Fabry (acroparathesias)

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4
Q

AgCC

A 
Aicardi syndrome
COFS/Cockayne syndrome (cerebrooculofacioskeletal)
Meckel-Gruber
Joubert
Walker-Warburg
Zellweger
Miller-Dieker
Acrocallosal
FG
Fryns
Septo-optic dysplasia
Trisomy 8, Trisomy 13
Frontonasal dysplasia
Mowat-Wilson
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5
Q

ADHD

A 
Aarskog
Fragile X
Fetal alcohol syndrome
NF1
47,XXX
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6
Q

Adrenal Insufficiency

A 
Congenital adrenal hyperplasia
X-CAHypoplasia
X-linked adrenoleukodystrophy
X-ALD adrenomyeloneuropathy
Hemochromatosis
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7
Q

Adrenal tumors

A

Li-Fraumeni syndrome (adrenocortical)
MEN1 (adrenocortical)
BWS (cytomegaly of fetal adrenal cortex, adrenal neuroblastoma)
Carney complex (bilateral micronodular adrenal hyperplasia)

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8
Q

Albinism syndrome

A 
Chediak Higashi
Hermansky-Pudlak
Prader Willi syndrome
Griscelli
OCA (1-4)
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9
Q

Albinism ocular

A

Nettleship-Falls (XLR)
Forsius-Erikson (XLR)
AR

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10
Q

Alopecia

A 
Hypomelanosis Ito
Hypohydrotic Ectodermal Dysplasia
Multiple carboxylase def
Rothmund Thomson
CHILD
Acrodermatitis Enteropathica
Clouston
Hallerman strieff
Dyskeratosis congentia (patchy)
Gomes-Lopez-Hernandez
Incontinentia pigmenti
Progeria (Hutchinson Gilford)
Goltz
X-CDP (patchy)
Ectrodactyly ectodermal dysplasia
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11
Q

Ambig genitalia/Hypospadius/Bifid scrotum

A 
Smith-Lemli-Opitz
Meckel-Gruber
Roberts
Campomelic Dysplasia
WAGR/Denys-Drash/Fasier
Congential adrenal hyperplasia
Androgen insensitivity
Bardet Biedl
Fraser
IUGR hypospadius
popliteal pterygium
Cat-eye
4p-; Wolf-Hirschhorn
OEIS (omphalocele, extrophy, imperforate anus spinal sequence)
Opitz G
Robinow
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12
Q

Anal anomalies

A 
VATER
OEIS
Cat eye
Towns Brock
Pallister-Hall
Baller-Gerald
CHARGE
Fraser
FG
Currarino
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13
Q

Anemia

A 
Fanconi
Chediak Higashi
Poryphyria
Pearson
ATRX
Thalassemia (alpha or beta)
Sickle cell
Aase-Smith syndrome (Diamond-Blackfan)
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14
Q

Anencephaly/NTD

A 
Acrocallosal
T13, T18, Triploidy, 22q, 13q-
Hydrolethalus
Meckel-Gruber
Roberts
Median cleft syndrome
Currarino
Hyperthermia
IDDM
MTHFR heterozygote
Valproate 
Tegretol
ETOH
Warfarin
ZIC3
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15
Q

Anesthetic risks

A 
Malignant Hyperthermia
Pseudocholinesterase deficiency
Myotonic Dystrophy (drugs->hypovent/apnea)
Anatomic (diff intubation)- Achon, MPS, 4p, Opitz
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16
Q

Angelman

A

maternal 15q11.2-q13 on FISH (70%)
paternal UPD 7%
imprinting defect 3%
UBE3A mutation 11%

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17
Q

Angiokeratoma

A 
Fabry
Fucosidosis
galactosialidosis
aspartlyglucosaminuria
B-mannisidosis
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18
Q

Aniridia

A 
AD aniridia
WAGR
Wilm's tumor-Aniridia
Gillespie
PAX6
Microophthamia linear skin defect
Goltz
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19
Q

Anticipation

A

Myotonic Dystrophy
Fragile X
Huntington
SCA7

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20
Q

Arachnodactyly

A 
Marfan
Beals
Antley Bixler
MEN2b
Stickler
Marden Walker
Homocysteinuria
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21
Q

Ataxia

A 
Fragile X
MERFF/NARP/Leigh
Huntington
Ataxia Telangiectasia
Freidrich's
Machado Joseph(eye paresis,spastic,parkinson)
Spinocerebellar ataxia
Leukodystrophy- Zelleweger, Refsum, Tay Sachs and Sandhoff,
MSUD (intermittent)
Vitamin E def
VitB6
Niemann Pick C
Ataxia Oculomotor apraxia
Charlesvoix-Sag Ataxia
Marinesco-Sjogren
Gillespie
Pyruvate dehydrogenase deficiency
Angelman
Hypobetaprotinemia
abetalipoproteinemia
SCAN (Spinocerebellar ataxia with Neuropathy)
Dentatorubro-pallidoluysian atrophy (DRPLA)
Neuronal ceroid lipofuscinosis
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22
Q

Auditory Canal Atresia

A

Goldenhar
Fraser
Nager
Treacher Collins
AEC (ankyloblepharon-ectodermal dysplasia clefting syndrome)
Antley Bixler
Atresia of the auditory canal and conductive deafness
SAMS-short stature auditory canal atresia mandibular hypoplasia, skeletal anomalies (GSC)

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23
Q

Autism

A 
Fragile X
Tuberous Sclerosis
Untreated PKU
Tourette
Rett
Angelman
Smith-Lemli-Optiz
Dup inv 15q marker
Duchenne muscular dystrophy
Neurofibromatosis 1
22q11
22q13
del16p11/dup16p13
dup7q
Simpson Golabi Behmel
Sotos
Creatine def
Lujan-Fryns
ARX homeobox gene
Myotonic dystrophy
Bardet Biedl
Walker Warburg
Meckel Gruber
Joubert syndrome
San Fillipo, MPS3
Biotinidase
Neuronal ceroid lipofuscinosis
Mitochondrial
Urea cycle defects
Arginosuccinate lyase deficiency
Pitt Hopkins
Timothy
MASA1 (mental retardation, adducted thumbs, shuffling gait, aphasia)
Rubinstein Taybe syndrome
Cohen
Borjeson-Forssman-Lehmann
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24
Q

Beckwith-Wiedemann

A

KCNQ1OT1 methylation abnormality 50-60% (loss of IC2)
11p15.5 paternal UPD (10-20%
H19 methylation abnomality 2-7%
CDKN1C mutation 5-10% of simplex

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25
Q

Bleeding diathesis/platelet dysfn/easy bruising

A 
Hemophilia
von Willebrand
Noonan
Wiskott-Aldrich
Jacobsen
Hereditary hemorrhagic telangiectasia
Hermansky Pudluk
Ehlers Danlos syndrome (IV)
Vit K receptor Def
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26
Q

Blepharphimosis

A 
Schwartz-Jampel
Fetal alcohol syndrome
Freeman-Sheldon
Dubowitz
Marden Walker
COFS/Cockayne
Ohdo syndrome
Blepharophimosis ptosis epicanthus inversus
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27
Q

Bone marrow failure

A 
Fanconi Anemia
Diamond-Blackfan
Shwachman-Diamond
Dyskeratosis congenita
severe congenital neutropenia
Thrombocytopenia absent radii
amegakaryocytic thrombocytopenia
Osteopetrosis
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28
Q

Breast cancer high penetrance

A 
BRCA1
BRCA2
p53 (Li-Fraumeni)
PTEN
STK11/LKB1 (Peutz-Jeghers)
E-cadherin (lobular)
Klinefelter
Bloom
AT heterozygotes
NF1
CHEK2
BRIP1
PALB2
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29
Q

Breast CA models

A

Gail
BRCApro
IBIS
Bodecia

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30
Q

Broad Thumbs

A 
Pfeiffer
Rubinstein-Taybi
Oto-Palatal Digital
Saethre-Chotzen
Brachydactyly D, E
LADD (lacrimo-auriculo-dental-digital syndrome)
Robinow
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31
Q

CADASIL

A 
Cerebral
Autosomal
Dominant
Arteriopathy
Subcortical
Infarcts
Leukoencephalopathy
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32
Q

Cafe-au lait spots

A 
Neurofibromatosis 1
Neurofibromatosis 2
Tuberous Sclerosis
Russell-Silver
McCune-Albright
LEOPARD (Lentigines EKG abnormalities Ocular hypertelorism Pulmonic stenosis Abnormalities of genitalia Retardation of growth Deafness)
Nonnan-NF1
Fanconi Anemia
AD café-au-lait spots
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33
Q

Calcification intracranial

A 
Sturge Weber
Porphyria Cutanea Tarda
Tuberous Sclerosis
Cockayne
Werner
Cytomegalovirus
Toxoplamosis
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34
Q

Calcified Falx

A

Gorlin
PXE (Pseudoxathoma elasticum)
Hyperparathyroid
Vit D intoxication

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35
Q

Cancer chromosomes

A 
Burkitt Lymphoma t(8;14) C-myc-IgH
CML t(9;22)(q34;q11) C-abl -breakage cluster region
Neuroblastoma (del 1p)
Retinoblastoma (del 13q14)
Meningioma (-22)
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36
Q

Cancer dysmorphic

A 
Beckwith-Wiedemann
Fanconi Anemia
Gorlin
WAGR
Down Syndrome
Sotos
Bloom
Cowden
Cockayne 
Werner
Rubenstein-Taybi
Klinefelter
Fraser
45X/46XY (gonadoblastoma)
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37
Q

CanMeds roles

A 
Medical Expert (the integrating role)
Communicator
Collaborator
Leader
Health Advocate
Scholar
Professional
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38
Q

Cardiac tumors

A

TSC (rhabdomyoma)
Carney (myxoma)
Gorlin (fibroma)

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39
Q

Cardio-Facio Cutaneous genes

A

KRAS
BRAF
MEK1
MEK2

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40
Q

Cardiomyopathy

A

FAOD
Mitochondrial
Barth

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41
Q

Cardiomyopathy dilated

A

Duchenne musclar dystrophy
Emery Dreifuss muscular dystrophy
Limb Girdle muscular dystrophy
Myotonic Dystrophy (more commonly arrhythmia)
Kearns Sayre
MERRF (myoclonic epilepsy with ragged red fibres)
MELAS (Metabolic Encephalopathy Lactic Acidosis Stroke)
LCHAD

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42
Q

Cardiomypathy hypertrophic

A 
LCHAD
Mucopolysaccaridosis
Fabry's disease
GSD (esp Pompe)
Noonan
Freidrich's Ataxia
FHC (Familial Hypertrophic Cardiomyopathy)
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43
Q

Cardomyopathy restricted

A 
Hemochromatosis
Endocard fibroelastosis
Fabry
Refsum
Pseudoxanthoma elasticum
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44
Q

Cataract (Adult)

A 
Myotonic Dystrophy
Stickler
Conradi-Hunermann
Pseudohypoparathyroidism
AD cataracts
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45
Q

Cataract (Neonatal)

A 
Rubella
Hallerman-Streif
Zellweger
Lowe
Chromosomal (Down S)
Marinesco Sjogren
COFS/Cockayne
Galactosemia
Galactokinase deficiency
sulfite-oxidase deficiency
molybdenum cofactor deficiency
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46
Q

Causal

A 
temporal
strength
biologic gradient
consistency
plausibility
coherance
experiment
analogy
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47
Q

Channelopathies

A 
hyperkalemic periodic paralysis
myotonia fluctuans
paramyotonia congenita
long QT 3
Episodic Ataxia 2
familial hemiplegic migraine
Congen Stationary night Blind
hypokalemic periodic paralysis
malig hyperthermia
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48
Q

CHARGE (what it stands for)

A 
Coloboma
Heart
Atresia choanae
Retarded growth/develop
Genital
Ear
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49
Q

Cherry Red Spots

A 
gm1 gangliosidosis
Niemann-Pick 1a
Tay Sachs (GM2 Gangliosidosis)
Sandhoff (GM2 Gangliosidosis)
Sialidosis
Krabbe (sometimes)
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50
Q

CHILD (what it stands for)

A

Congenital
Hemidysplasia
Ichthyosisform Erythroderma
Limb defects

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51
Q

Choanal Atresia

A 
Antley Bixler
CHARGE
Lenz Majewski
Apert
Crouzon
Saethe Chotzen
Pfeiffer
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52
Q

Cholestasis

A 
Alagille
Alpha-1 antitrypsin deficiency
ARC
Byler
Zellweger
Cystic fibrosis
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53
Q

Cholesterol pathway syndromes

A 
Antley Bixler
Greenberg Dysplasia
CHILD
Lathosterolosis
Smith-Lemli-Opitz
Desmosterolosis
CDPX2
steroid sulfatase deficiency
congenital adrenal hyperplasia
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54
Q

Chromatin remodeling

A 
Alpha thalassemia X-linked retardation
Rett
ICF syndrome (immunodeficiency, centromeric instability and facial anomalies)
Rubinstein-Taybi
Floating Harbour
Coffin-Lowry
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55
Q

Chromosomal breakage

A 
Ataxia telangiectasia
Xeroderma pigmentosum
Cockayne
Fanconi anemia
Bloom syndrome
Nijmegen breakage syndrome
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56
Q

Chromosome stains

A 
Q
G
R
NOR
C (centromeric)
DAPI
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57
Q

Ciliopathy

A 
Bardet Biedl
Kartagener
Polycystin kidney disease
Senior-Loken
Joubert
OFD1
Meckel
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58
Q

Cirrhosis

A 
Alpha-1 antitrypsin
Hemochromatosis
Ethanol abuse
Wilson's
Tyrosinemia
Galactosemia
Berardinelli Lipodystrophy
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59
Q

Cleft lip +/ cleft palate

A 
Trisomy 13
Dilantin
Van der Woude
Ectrodactyly and ectodermal dysplasia
Roberts
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60
Q

Cleft palate

A 
Cleft palate ankylglossia (XLR)
Shprintzen
Oto-palatal digital
Stickler
Accutane
Nager
22q11 DS
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61
Q

Clubfoot

A 
T18
Bowen-Conradi
Congenital Myotonic Dystrophy
Diastrophic Dysplasia
Amyoplasia
Spina Bifida
Aminopterin
62
Q

COACH (what it stands for)

A 
Cerebellar hypoplasia
Oligophrenia
Ataxia
Coloboma 
Hepatic Fibrosis
63
Q

coag hyper

A 
Prothrombin 20210
Protein C deficiency
Protein S deficiency
factor 5 leiden
Antithrombin 3
64
Q

Coarse Face

A 
hypothyroid
Mucopolysaccaridosis
Mucolipidosis
Coffin-Siris
Coffin-Lowry
Fryns
Pallister-Killian
Williams
Rasopathies
Nicolaides-Baraitser
65
Q

Coloboma Iris

A 
CHARGE
cat-eye
Aniridia -Wilms
T13 
Triploidy
Walker-Warburg
66
Q

colon cancer

A 
Familial adenomatosis polyposis
HNPCC/Lynch syndrome
Li-Fraumeni syndrome
Peutz-Jeghers
Cowden 
Juvenile polyposis
67
Q

congenital heart defect

A 
Holt-Oram (ASD)
Down Syndrome. (Endocardial cushion defect)
Digeorge (interrupted aortic arch)
Noonan (Pulmonary Stenosis)
Turner (Coarctation of aorta)
William (supravalvular aortic stenosis)
Alagille (Pulmonary artery stenosis)
68
Q

Conotruncal Heart Defects (types)

A 
Truncus Arteriosus
Tetralogy of Fallot
Interupted Aortic Arch B
Conotruncal VSD
Double outlet Right ventricle
transposition of great vessels
Pulm atresia + VSD
69
Q

contiguous gene syndrome

A 
PWS/Angelman (15q12)
Miller-Dieker (17p13)
Digeorge/VCF (22q11)
Beckwith-Wiedemann (11p15)
Trichorhinophalangeal (8q24)
Retinoblastoma (13q)
Smith Magenis (17p11)
Williams (7p)
TSC2 and ADPKD1 (16p)
ATRX (16p)
Jacobsen(11q)
Kleefstra (9q)
1p36 deletion syndrome
Phelan-McDermid (22q13)
70
Q

Contractures

A 
Distal Arthrogryposis/Freeman Sheldon
Escobar (multiple pterygium)
Amyoplasia
COFS/Cockayne
Trisomy 8 mosaic
Antley Bixler
Beals
Emery Dreifuss
T18
71
Q

Corneal Clouding

A 
Hurler (MPS I)
Scheie (MPS I)
Steroid Sulfatase defn
cystinosis
Maroteaux Lamy
a-Mannosidosis
I Cell disease
Fryns syndrome
CMV
MPS I, V, VI, 
Pelizaeus-Merzbacher
Fabry
72
Q

Craniosynostosis

A 
Crouzon (FGFR2)
Pfeiffer (FGFR1/2)
Apert (FGFR2)
Carpenter (RAB23)
Jackson-Weiss (FGFR2)
Saethe-Chotzen TWIST
Meunke(FGFR3)
Beare-Stevenson (FGFR2)
Antley-Bixler (FGFR2 and POR)
Shprintzen Goldberg (SKI)
Baller-Gerold (RECQL4)
73
Q

Cranioynostosis -sutures

A

Oxycephaly = acrocephaly = generalized = pointed head
Plagiocephaly = unilateral coronal or lambdoid
Trigonocephaly = metopic
Scaphocephaly = dolicocephaly = saggital, long narrow skull
Brachycephaly=coronal

74
Q

Dandy-Walker

A 
HARD-E hydrocephalus, agyria, and retinal dysplasia with or without encephalocele = Walker Warburg
Meckel-Gruber
Fraser
Aicardi
CMV
75
Q

Deafness +

A 
Usher
Waardenberg
Alport
Albinism-Deafness
Perrault (ovarian dysgenesis)
Jervell-Nielsen with long QT (AR)
Noonan, LEOPARD
Cat-eye
Treacher collins
Townes-Brocks
Alstrom
76
Q

Delayed Closure Fontanelle

A 
Increased intercranial pressure
hypophosphatasia
Cleidocranial dysplasia
hypothyroid
Down S
Dilantin
OPD-II
77
Q

Diabetes

A 
Hemochromatosis
DIDMOAD (Diabetes Insipidous Diabetes Melitis Optic Atrophy Deafness - aka Wolfram)
Klinefelter
Prader Willi
Cystic fibrosis
Polyendocrine autoimmune (AR or AD)
Maturity onset diabetes of the young
Myotonic Dystrophy
Friedrich's Ataxia
Mitochondrial
Transient Neonatal Diabetes (UPD6)
Alstrom
78
Q

Diaphramatic Hernia

A 
Fryns
Cornelia De Lange
Beckwith Weidemann
CHARGE
Triploidy
Denys-Drash
Pallister-Killian
Simpson -Golabi-Behmel
Wolf-Hirschorn
Donnai-Barrow
79
Q

DS screens

A

a) Double: AFP+HCG
b) Triple:a)+e3
c) Quad:b+Inhibin A
d) Combined:NT+PAPP-A
e) Serum integrated:c)+PAPP-A
f) Integrated:f+NT
g) Sequential:CVS if 1st T=high
h) contingent 1st T -> high(CVS),med(2T),low(no 2T)

80
Q

Ear Pits

A 
Branchio-oto-renal
Goldenhar
Cat-Eye
Wolf Hirschhorn
Cri du Chat
Kabuki
Treacher Collins
81
Q

Ear Tags

A 
Goldenhar
Townes Brock
Cat Eye
Del 4p
Del 5p
82
Q

Ectopia Lentis

A

Homocystinuria
Sulfite Oxidase Def
Marfan
Auto Dom Ectop Lentis

83
Q

Ehlers-Danlos

A 
Classical
Hypermobility
Vascular
Kyphoscoliosis
Arthrocalasia
Dermatospraxis
84
Q

EKG abnormal

A 
Romano Ward (AD increased QT)
Jervell-Nielsen (AR, increased QT, deaf)
Wolf Parkinson White (AD)
Hypertrophic Cardiomyopathy with Wolf Parkinson White
Kearns-Sayre
Holt-Oram (conduction defects)
ARVC (PKP2)
CPVT (RYR2/CASQ2)
McCune Albright (Tachy)
Costello (Tachy)
M-CAP (arrhythmia)
Ulnar-Mammary (arrhythmia)
85
Q

Encephalocele

A 
Meckel Gruber
Walker-Warburg (HARD-E)
Roberts
Goldenhar
Frontonasal dysplasia
Pallister Hall
Joubert
86
Q

Frontal encephalocele

A

Boomerang dysplasia
Roberts
Currarino
Frontonasal dysplasia sequence

87
Q

Epiphyseal Stippling

A 
Rhizomelic Chondrodysplasia punctata
Zellweger
Warfarin
CHILD
X-linked chondrodysplasia punctata I and II
Acrodysostosis
Smith Lemli Opitz
Vit K receptor defect
88
Q

Esophageal Varices

A 
Wilson
Cystic fibrosis
Gaucher type 1+3
Beradinelli Lipodystrophy
GSD IV
89
Q

Estriol very low

A 
Anencephaly
T18
Smith Lemli Optiz
X-linked icthyosis, steroid sulfatase deficiency
X- linked adrenal hypoplasia
Intrauterine fetal demise
Antley-Bixler
Greenberg
90
Q

Ethics

A

beneficience
non-malificience
autonomy
justice

91
Q

Exocrine Pancreatic Deficiency

A 
Cystic fibrosis
Schwachman-Diamond
Pearson
Johanson Blizzard
Albright Hereditary osteodystrophy
92
Q

Fanconi Syndrome

A 
Cystinosis
Galactosemia
Tyrosinemia
Fructose intolerance
Wilson
93
Q

Female predominance

A 
Rett
Incontineti Pigmenti
Hypomelanosis of Ito
Goltz
T18
Cleft palate
Kippel-Feil
Turner
Currarino
94
Q

FGFR

A

1 Pfeiffer
2 Apert, Cruzon, Jackson-Weiss, Pfeiffer, Beare-Stevenson, Antley-Bixler
3 Meunke, Cruzon with Acanthosis nigricans, achondroplasia, hypocondroplasia, thanatophoric dysplasia, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)

95
Q

Gastric cancer

A

CDH1 (diffuse gastric ca)

HNPCC/Lynch

96
Q

gene therapy diseases

A 
Cystic Fibrosis (adenovirus->resp tract)
ADA defeciency (retrovirus->lymphocytes)
Fam. Hypercholesterolemia (retrovirus->hepatocyte)
Lesch-Nyhan
DMD (retrovirus & myoblast)
Gaucher (retrovirus->heme stem cell)
97
Q

gene therapy methods

A 
transfection (precip over cult cells)
protoplast fusion
electroporesis
microinjection
retroviral
DNA viral
98
Q

GLI3

A

Pallister-Hall
Greig cephalopolysyndactily
AD polydactyly
Curry-Jones

99
Q

Glycogen storage

A 
1a Von Gierke (G6phosphatase)
1b (G6phosphate translocase)
2 Pompe (1,4,Glucosidase)
3 Cori (Debranching)
4 Anderson (branching)
5 McCardle (Muscle Phosphorylase)
6 Hers (Liver Phosphorylase)
7 Tauri (Muscle Phosphofructokinase)
9 (Phosphorylase Kinase)
0 (Hepatic Glycogen Synthase)
100
Q

HARD-E

A 
hydrocephalus
Agyria
Retinal 
Detachment
Encephalocele
=Walker-Warburg
101
Q

Hardy -Weinberg

A 
random mating
large population
few mutations
little migration
little selection
102
Q

Hirschprung

A 
Down syndrome
del 13
Neurofibromatosis 1
MEN2
Waardenburg
Cartilage hair
Mowat-Wilson
Congenital central hypoventilation syndrome (PHOX2B)
103
Q

HNPCC/Lynch

A 
MLH1
MSH2
MSH6
PMS2
EPCAM
104
Q

Holoprosencephaly

A 
Trisomy 13
Meckel-Gruber
diabetes
13q-
18p-
Non syndromic = Sonic Hedgehog pathway
105
Q

Homeobox genes

A

Schizencephaly (EMX2)
Waardenburg (PAX3)
Aniridia (PAX6)
Coloboma-Renal Anomalies) (PAX2)

106
Q

Hutterite

A 
CPT1
Cystic fibrosis
Bowen Conradi
LGMD2H & 2I
dilated cardiomyopathy ataxia
VLDLR associated cerebellar hypoplasia
Joubert/Meckel
107
Q

Hydrocephalus

A 
Environment (Torch, Accutane, Meningitis)
AD (Achondroplasia,Thanatophoric)
AR (Walker-Warburg, hydrolethalus)
XLR hydrocephalus (aqueduct stenosis)
T21
108
Q

Hyperammonemia

A 
Transient (eg premature/respiratory distress syndrome)
organic aciduria
OTC (hi citrulline & orotate)
CPS (hi citrulline, low orotate)
AL (slight hi citrulline)
AS (very hi citrulline)
Fatty acid oxidation defect
Mitochondrial
109
Q

HyperCoag

A 
Birth control pill
Anti-thrombin 3
Protein C
Protein S
Prothrombin G20210A
C677T MTHFR
Factor V Leiden
110
Q

Hyperphenylalanemia

A 
Transient (premature,transient  tyrosine,galatosemia,liver disease)
Classical (>20)
Atypical (12-20)
Mild (<12)
Pterin Defect
111
Q

Hypertelorism

A 
CL+P sequence
Aarskog
Robinow
Hypertelorism-Hypospadias
Waardenburg
Dilantin
Optiz G/BB
Loeys-Dietz
OFD
Craniofrontonasal
Frontonasal dysplasia
112
Q

Hypocalcemia neonatal

A

DiGeorge
transient
decreased PTH secondary to maternal increased PTH

113
Q

Hypodontia

A 
Hypohydrotic Ectodermal Dysplasia
Ellis Van Crevald
Goltz
Aarskog
Incontinentia Pigmenti
Coffin Lowry
Ectrodactyly ectodermal dysplasia
Tricho-dento-osseous
Axenfeld-Reiger
Van der Woude
LADD (lacrimo-auriculo-dento-digital syndrome)
114
Q

Hypoglycemia

A 
Beckwith Wiedemann
Glycogen Storage 1,3
Diabetic mother
IUGR
MSUD
Fatty Acid Oxidation Defects
Sepsis
b-blockers
panhypopituitarism
GH deficiency
Isolated Hyperinsulinism
Hyperinsulinism related to Nesidioblastosis
Ketogenesis (HMG CoA lyase/synthase)
Ketolysis (Beta-ketothiolase)
115
Q

Hypoglycemia neonatal

A

Maternal diabetes
Beckwith Weidemann
IUGR
Hyperinsulinism

116
Q

Hypotonia (severe)

A 
Congenital Muscular Dystrophies, 
EDS VI
Prader Willi syndrome
Zellweger
Spinal muscular atrophy
Congen Myotonic Dystrophy
FG
Pompe
117
Q

ICF syndrome

A

Immunodeficiency
Centromeric instability
Facial anomalies

118
Q

Ichthyosis

A 
X-linked (Steroid Sulfatase)
Sjogren-Larson (AR,+MR,diplegia)
Vulgaris
Lamellar 
Congenital Ichthyosiform Erthroderma (CHILD)
Senter-Kid
Neu-Laxova
119
Q

Immunodeficiency

A 
DiGeorge
Ataxia telangiectasia
Wiskott Aldrich
Adenosine deaminase deficiency
Bloom
del 18q
Chediak Higashi
Griscelli
SIDS
120
Q

Imperforate anus

A 
Cat eye
T18
Towns Brock
VACTERL
FG
OEIS
Baller Gerold
Johanson Blizzard
Pallister-Hall
Sirenomelia
Meckle-Gruber
Thanatophoric Dysplasia
1p36 del
Walker-Warburg
Opitz G
121
Q

Imprinting evidence

A

pronuclear mice experiments
triploids
UPD eg IUGR in CF
Syndromes PWS and AS

122
Q

Infantile Spasms

A 
Phenylketonuria
Non-ketotic hyperglycinemia
Aicardi
Tuberous Sclerosis
Sturge Weber
COFS/Cockayne
Hypomelanosis of Ito
1p36 deletion
123
Q

Intracranial Aneurysm

A 
ADPKD
Ehlers Danlos 1, 6
Neurofibromatosis
Marfan
Loeys Dietz
124
Q

Jewish diseases

A 
Tay-Sachs
Canavan
Dysautonomia
Bloom
Gaucher
Fanconi C
GSD 1a
Mucolipidosis 4
Niemann Pick A &amp;B
125
Q

L1 syndrome

A

(XL -hydrocephalus)
MASA
SPG1 (XL spastic paraplegia 1)
XL Corpus Callosum agenesis

126
Q

Lactic Acidosis

A 
decreased Oxygen/perfusion/seizure
Fatty acid
Organic acidemia
Ox/Phos (mitochondrial)
Decrease gluconeogenesis (GSD)
127
Q

Laminopathies

A 
Emery-Dreifuss AD/AR
Limb Girdle muscular dystrophy 1B
Dilated cardiomyopathy with conduction defect
partial lipodystrophy
Progeria
Restrictive Dermopathy
CMT2
128
Q

LEOPARD (what it stands for)

A 
Lentingines
EKG abnormal
Ocular anomalies
Pulmonic Stenosis
Abnormal genitalia
Retardation growth
Deafness
129
Q

lethal chondrodysplasia

A 
thanatophoric
homozygous achondroplasia
greenberg lethal chondrodystrophy
achondrogenesis
Osteogenesis imperfecta II
Infantile Hypophosphatasia
130
Q

Leukodystrophy

A 
Metachromatic leukodystrophy
Krabbe
Pelizaeus-Merzbacher
Neonatal adrenoleukodystrophy
X-linked adreno/X-linked adenomyeloneruopathy
131
Q

Limb reduction defect

A

Amniotic band
Adams Oliver
Cornelia de Lange
Poland/Moebius syndrome

132
Q

Lissencephaly

A 
Miller Dieker
Walker-Warburg
Isolated lissencephaly
X-linked lissencephaly (double cortin)
Neu Laxova
Fukuyama Myotonic dystrophy
CMV
Aicardi syndrome (polymicrogyria)
133
Q

Lysosomal

A 
Membrane transort defect (Cystinosis)
MPS (eg Hunter/Hurler)
Lipidosis (Mucolipidosis)
Spingolipidosis (Fabry/TaySachs/Gaucher)
Glycoproteinosis (oligosaccharidoses)
134
Q

Macrocephaly

A 
hydrocephalus
fragile X
neurofibromatosis
familial benign megancephaly
Sotos
Cowden/Banayan-Riley -Ruvalcaba
Gorlin
Cranio-cleidal dysostosis
Storage (MPS2)
Proteus
135
Q

Male development

A 
Ychromosome->SRY
SRY->testes
Testes->Testosterone + MIF
Testoserone via 5alpha reductase to DHT
androgen receptor
136
Q

Male DSD

A 
Gonadal dysgenesis (del y, 45X/46/XY)
5-alpha-reductase deficiency
Androgen insensitivity
decrease testosterone synthesis (eg 17-beta hydroxysteroid dehydrogenase deficiency)
137
Q

Malignant Hyperthermia

A 
Duchenne Muscular dystrophy
Becker muscular dystrophy
Myotonic Dystrophy
Schwartz Jampel
Central Core Disease
myotonia congenita
Noonan
AD Malignant hyperthermia
138
Q

Marfanoid habitus

A 
Marfan
Homocysteinuria
MEN2B
Shprintzen Goldberg
Beals
Loey-Dietz syndrome
Ehlers Danlos syndrome
Stickler
139
Q

MASA (what it stands for)

A

Mental Retardation
Adducted thumbs
Shuffling gait
Aphasia

140
Q

Medullary Thyroid Ca

A

Sporadic (80%)
Familial non-MEN
MEN 2A
MEN 2B

141
Q

MELAS

A 
Mitochondrial 
Encephalopathy
Lactic
Acidosis
Stroke-like episodes
142
Q

MEN1

A 
Pituitary Adenoma
Parathyroid Hyperplasia/Adenoma
Pancreatic islet cell tumor
Carcinoid
Adrenocortical carcinoma
143
Q

MEN2A

A

Medullary Thyroid Carcinoma
Parathyroid Hyperplasia/Adenoma
Pheochromocytoma

144
Q

MEN2B

A

Medullary Thyroid Carcinoma
Multiple Mucosa Neuromas
Pheocromocytoma
Marfanoid

145
Q

Meningocele

A

Valproic
Trisomy 18
Triploid
OEIS (omphalocele, extrophy, imperforate anus, spinal defects)
diabetes
CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects)
Fetal Alcohol syndrome

146
Q

MERRF (what it stands for)

A 
Mitochondrial 
Encephalopathy
Ragged
Red 
Fibres
147
Q

Metabolic and dysmorphic

A 
Zellweger
Smith Lemli Opitz
Mucopolysaccharidosis
Mucolipidosis
Homocysteinuria
Glutaric aciduria
Menkes
PDH deficiency
148
Q

Metabolic RX

A

Increase mutant protein function (B6 for homocysteinuria)
Use alternate pathway (Betaine for homocysteinuria)
Replace extracell protein (factor 8 deficiency, alpha-1 antitrypsin)
Bind to toxin (Ammonul)
Bind to product that is accumulating (Zinc in Menkes)
Provide missing compound (biotin, pyridoxine, mannose)
Replace intracellular protein intracellularly (glucocerebrosidase)
decrease precursor (PKU)
Gene RX

149
Q

Metabolic types

A 
decreased product (Tneg albinism,hemophilia)
Increase precursor (PKU)
Membrane transport (Cystinuria)
Receptor (familial hypercholesterolemia)
Increased enzyme
150
Q

Microcephaly

A 
Rett syndrome
Angelman
Kleefstra
Cockayne
MOPD II (microcephalic osteodysplastic primordial dwarfism)
Breakage (Bloom, Fanconi anemia)
4p-
5p-
Trisomy 18/13
AR microcephaly/Seckel syndrome
TORCH
Dubowitz
Coffin-Siris
Borjeson-Forsman-Lehmann 
Smith-Lemli-Optiz
Miller-Dieker
151
Q

Micrognathia

A 
Marden Walker
Stickler
Pierre Robin
Treacher Collins
Nager
Miller
Goldenhar
Oromandibular Limb
Otopalatal digital 2
152
Q

Microtia

A 
Oculoauricular vertebral
Townes Brock
Accutane
Pallister-Hall
CHARGE
Mandibulo-facial Dysostosis with microcephaly (EFTUD2)

Differentials (1 decks)

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