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Key Symptoms Flashcards

1
Q

Valproic acid/anti-convulsant exposure

A

NTD’s (myelomeningecele)

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2
Q

Maternal diabetes

A

Caudal Regression

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3
Q

Trisomy 13

A

Holoprosencephaly

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4
Q

Trisomy 18

A

Limb anomolies (rocker bottom feet, clenched fists) Choroid plexus cysts

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5
Q

Cat Eye Syndrome

A

Marker 22, coloboma CHD, ear pits/tags

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6
Q

Triploidy

A

Cystic placenta

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7
Q

Turner

A

45X, Paternal Meiosis, Webbed neck, streaked ovaries, horseshoe kidneys, aortic stenosis/coarctation

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8
Q

Klinefelter

A

47XXY, Maternal or paternal meiosis 1 Tall stature, feminization at puberty

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9
Q

BWS

A

Paternal UPD 11p15 or maternal mutations. Macroglossia, macrosomia, ear pits (in helices)

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10
Q

Angelman

A

Paternal UPD 15q11 or maternal mutations in UBE3A. “happy puppet”, fascination with water

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11
Q

PWS

A

Maternal UPD 15q11 or paternal deletions in UBE3A. Obesity, excessive eating (obsessive), PICO behaviors

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12
Q

Wolf-Hirschorn

A

4p deletion, greek warrior helmet

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13
Q

Russel-Silver

A

Maternal UPD 11p5 or paternal mutations. Triangular face with delicate features

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14
Q

Cri-Du-Chat

A

5p-, cat like cry

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15
Q

Williams Syndrome

A

7q-, Cocktail personality, cardiac defects

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16
Q

Smith-Magenis

A

17p-, Sleep disturbances, ear anomalies, behavioral disturbances, strabismus

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17
Q

Miller-Deiker

A

17p13 deletion, Lissencephaly

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18
Q

Digeorge

A

22q deletion, heart defects, thymus/immune problems, hypocalcemia, ear tags/pits

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19
Q

Alkaptonuria

A

AR, black urine

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20
Q

Homocysteinuria

A

Like marfan, can have DD/ID

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21
Q

MSUD

A

AR, Maple-syrup urine

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22
Q

PKU

A

AR, musty smell, mousy hair

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23
Q

Tyrosinemia

A

AR, rickets, cabbage smell

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24
Q

Fatty acid oxidation disorders

A

AR Crisis during fasting, illness or after high fat consumption, hypoketotic hypoglycemia

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25
Q

Galactosemias

A

AR Cataracts begin before return of NBS results because of maternal milk

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26
Q

GSD

A

AR Muscle weakness, fasting crisis (different from FAO- need high fat diets for treatment)

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27
Q

Pompe

A

AR similar to limb-girdle MD (except neonatal onset)

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28
Q

Fabry

A

XL Corneal whorl, fabry crisis, HCM

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29
Q

Gaucher type 1 (typically)

A

AR Erlenmeyer flask deformity, gaucher cells, bone crisis

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30
Q

Gaucher type 2

A

AR no bone crisis, neurological complication

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31
Q

Gaucher type 3

A

AR oculomotor apraxia

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32
Q

Krabbe

A

AR Irritibility with quickly progressive psychomotor deterioration

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33
Q

MPSII and III (hunter and san fillipo)

A

Clear corneas, Type II is XL

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34
Q

MPS IV and VI (Morquio and Mariteaux Lamy)

A

Normal cognition

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35
Q

MPS III

A

Most mild skeletal phenotype

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36
Q

MPS IV

A

Most severe skeletal phenotype

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37
Q

Tay-Sachs

A

AR Cherry Red spot ( also seen in Neimann-Pick A) Progressive psychomotor deterioration

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38
Q

Isovaleric acidemia

A

AR Smells like sweaty socks

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39
Q

Urea cycle disorders

A

AR (except OTC) Protein aversion, hyperammonemia, respiratory alkalosis

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40
Q

Arginase deficiency

A

AR Only urea cycle disorder where hyperammonemia is rarely present

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41
Q

Canavan

A

AR Head lag, hypotonia and macrocephaly

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42
Q

Hemochromotosis

A

AR excess iron

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43
Q

SLO

A

AR elevated 7-dehydroxy cholesterol

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44
Q

Wilson’s

A

AR Elevated copper and kaiser fleisher rings

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45
Q

Carney Complex

A

AD Myxomas, psammomatous melanotic schwannoma, spotty skin

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46
Q

HBOC

A

AD Breast, ovarian, prostate and pancreas, less than 50

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47
Q

FAP

A

AD hundreds of polyps

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48
Q

HNPCC

A

AD colon, uterine, ovarian and other GI

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49
Q

Gardner

A

AD FAP with desmoids

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50
Q

Li fraumeni

A

AD ACC, CPC, sarcoma and breast under 35

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51
Q

MEN1

A

AD parathyroid, pituitary and pancreas (3 P’s)

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52
Q

MEN2A

A

AD Medullary thyroid cancer, Pheo’s

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53
Q

MEN2B

A

AD young medullary thyroid cancer, pheo, marfanoid stature, mucosal neuromas

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54
Q

NF2

A

AD Bilateral vesibular schwanomas

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55
Q

PTEN

A

AD Breast, uterine, thyroid, macrocephaly, autism and penile freckling

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56
Q

Lhermitte-Duclose (seen in PTEN)

A

dysplastic gangliocytoma of the cerebellum

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57
Q

TSC

A

AD cardiac rhabdomyoma, shagreen patch, confetti skin

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58
Q

VHL

A

AD Clear cell renal cancer, renal and pancreatic cysts, pheos and paras

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59
Q

Arrhythmia/cardiomyopathy

A

Sudden death, fainting and symptoms with exercise or strong emotions

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60
Q

CADASIL

A

AD strokes

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61
Q

Jervell and lange neilson syndrome

A

AR LQTS with deafness

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62
Q

CF

A

AR mucus in the lungs, pancreas and infertility in men

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63
Q

chromosomal breakage disorders

A

Increased risk for cancer sensiitive to ionizing radiation (not cockayne)

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64
Q

Bloom

A

AR Small stature, high pitched voice, butterfly skin lesions

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65
Q

Cockayne Syndrome

A

AR Cachetic dwarfism, premature aging, neurologic deterioration with early death.

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66
Q

Fanconi anemia

A

AR and XL skeletal abns (fingers and thumbs) short stature, pancytopenia

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67
Q

Werner

A

AR Premature aging, early onset of age related illnesses, (diabetes, atherosclerosis, etc.)

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68
Q

Xeroderma Pigmentosum

A

AR Sun results in skin cancer with minimal exposure

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69
Q

Bardet-Biedl

A

AR/Digenic recessive Polydactyly, RP, renal problems

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70
Q

Joubert

A

XL/AR Molar tooth sign on MRI, ataxia, oculomotor apraxia

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71
Q

Meckel-Gruber

A

AR Polydactyly, lethal in utero, multi-system malformation and CNS malformations

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72
Q

Hemophilia

A

XLR excessive bleeding

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73
Q

Factor V

A

XLR Excessive clotting

74
Q

Von Willebrand

A

AD (most) can be AR. Easy bruising/bleeding

75
Q

OI

A

AD brittle bones, easy fracturing

76
Q

OI type II

A

AD Severe, perinatal lethal

77
Q

Alpha thal

A

Digenic, variable. hydrops, HbH disease, microcytic hypochromic anemia

78
Q

Beta thal

A

AR microcytic hypochromic anemia, bone deformities

79
Q

sickle cell

A

AR sickle cell crisis, acute chest syndrome, dactylitis

80
Q

Mito

A

poor growth, excercise intolerance, hearing and vision loss, ID, learning disabilities, seizures, strokes

81
Q

Barth

A

XL dilated cardiomyopathy, neutropenia

82
Q

Leigh

A

XL, AR and Mito. rapid and lethal lactic acidosis, cardiopulmonary failure

83
Q

POLG

A

AR or AD psych issues, parkinsonism, mito syndromes

84
Q

Mito deletion disorders

A

MITO KSS, pearson, CPEO and leigh

85
Q

ALS

A

AD motor neuron deterioration

86
Q

CMT

A

AD, AR and XL Foot drop and muscle wasting

87
Q

DMD

A

X-linked muscle wasting, early death in boys, caused by out of frame deletoins

88
Q

BMD

A

X-linked muscle wasting less severe than DMD, in frame deletions

89
Q

FSHD

A

AD Large deletion of 4q35 scapular winging, slowly progressive

90
Q

Limb girdle

A

AD, AR. Late onset (10-30) muscle wasting

91
Q

Nemaline Myopathy

A

AD and AR. AJ and Amish, muscle weakness and wasting, ranges from severe, congenital with early death to mild

92
Q

Walker Warburg

A

AR most severe congenital muscular dystrophy, death by age 3

93
Q

KTW

A

Somatic. Port wine stain, hemihypertrophy

94
Q

Proteus

A

overgrowth, somatic mutation

95
Q

Simpson-golabi-behmel

A

XL overgrowth, ‘bulldog syndrome’

96
Q

Sotos

A

AD, mostly de novo. Sparse hair, pointed chin, overgrowth, flushed cheeks

97
Q

Weaver

A

AD. Rapid continuous growth, hoarse cry as babies, coarse features

98
Q

Cardio-facio-cutaneous

A

AD. Skin abns, chd, craniofacial abns

99
Q

Costello

A

AD. ID, HC< pulmonic stenosis, rhabdomyosarcoma and neuroblastoma

100
Q

NF1

A

AD. Lisch nodules, CAL, neurofibromas, optic glioma

101
Q

Legius

A

AD. NF1 symptoms minus lisch and neurofibromas

102
Q

Noonan

A

AD. ‘male turner’, webbed neck, pulmonic stenosis, short stature

103
Q

LEOPARD

A

AD. noonan with multiple lentigines

104
Q

Fragile X

A

XL. large ears, large testicles, maternal anticipation, 5’ UTR expansion (no mutation 45, premutation 55-200, mutation >200)

105
Q

Fragile x premutation

A

males get FXTAS, females FXPOI

106
Q

Freidriech ataxia

A

only AR repeat expansion, ataxia, cardiac concerns, intronic expansions

107
Q

HD

A

AD. chorea, psychomotor retardation, paternal anticipation, exonic expansions

108
Q

DM

A

AD cataracts, balding, muscular dystrophy, maternal anticipation, 3’UTR repeats

109
Q

Congenital DM

A

More repeats, more severe

110
Q

Spinal bulbar muscular atrophy

A

XL Allelic to androgen insensitivity, muscular atrophy with endocrine disfunction, repeat expansion

111
Q

Spinocerebellar ataxia

A

AD ataxia, chorea, cerebellar atrophy, repeat expansion

112
Q

21-hydroxylase deficiency

A

AR salt wasting, virilization, ambiguous genitalia

113
Q

Kallman

A

XL hypogonadotrophic hypogonadism and anosmia

114
Q

X-linked adrenal hypoplasia congenita

A

XL acute adrenal insufficiency, hypogonadotrophic hypogonadism

115
Q

achondroplasia

A

AD most common form of dwarfism, 98% due to a point mutation in FGFR3

116
Q

FGFR2 disorders

A

AD antley-bixler, apert, pfeiffer, crouzon, craniosynostosis and bulging eyes

117
Q

Pfeiffer

A

AD cloverleaf skull, can be sporadic, severe and lethal

118
Q

Cleidocranial dysplasia

A

AD absent clavicles

119
Q

diastrophic dysplasia

A

AR dwarfism, unusual club foot and hitchhiker thumb

120
Q

hypochondroplasia

A

AD less severe than achondroplasia (a=absent v. hypo= less)

121
Q

Mccune albright

A

Somatic post-zygotic, mosaic. coast of maine CAL, fibrous dysplasia

122
Q

Muenke

A

AD craniosynostosis, hearing loss, FGFR3

123
Q

Multiple exostosis

A

AD multiple osteochondromas

124
Q

saethre-chotzen

A

AD craniosynostosis, acrocephaly, TWIST1

125
Q

thanatophoric dysplasia

A

AD, de novo. cloverleaf skull, severe dwarfism, lethal at/shortly after birth

126
Q

Aarskog

A

XL faciogenital dysplasia, shawl scrotum

127
Q

X-linked agammaglobulinemia

A

XL severe immune deficiency

128
Q

Alagille

A

AD bile duct paucity, butterfly vertebrae, postoerior embryotoxon

129
Q

alport

A

AD, AR, XL kidney problems and hearing loss

130
Q

Brachio-oto-renal

A

AD brachial cleft cyst, hearing loss, renal anomolies

131
Q

CHARGE

A

AD coloboma, heart, choanal atresia, growth delay, genitourinary anomolies, ear

132
Q

coffin-lowry

A

XL X-linked, can affect females; severe ID, heart problems, growth anomolies, auditory/visual problems

133
Q

Coffin-Siris

A

AR, AD. severe ID, hypoplastic thumb nails

134
Q

Cohen

A

AR obesity, sociable personality, ID visual anomolies

135
Q

Corneila De lange

A

AD, XL. synophrys, hirsuitism, limb reduction defects, ID

136
Q

Diamond blackfan anemia

A

AD, XL. anemia, heme malignancy, klippel-feil anomaly, hand deformaties

137
Q

Familial dysautonomia

A

AR. AJ, no tears, pain and temperature sensation anomalies, dysautonomia crisis

138
Q

Familial mediterranean fever

A

AR recurrent autoinflammatory episodes, kidney failure, colchicine treatment

139
Q

Fryns

A

AR. diaphragmatic hernia, death in neonate

140
Q

Goldenhar

A

Unknown. hemifacial microsomia with visceral organ underdevelopment, UNILATERAL hearing and vision loss

141
Q

Greig Cephalopolysyndactyly

A

AD macrocephaly, poly/syndactyly

142
Q

Hay-wells

A

AD ectodermal dysplasia, fusion of eyelids

143
Q

Holt-oram

A

AD limb reduction defects, heart problems, thalidomide phenocopy

144
Q

Incontinentia pigmenti

A

XL skin blistering, wart-like rash, macular hyperpigementation and alopecia

145
Q

Kabuki

A

AD pleasant personality, ID, facies

146
Q

L1 syndrome

A

XL hydrocephalus, MASA (MR, aphasia, spastic paraplegia, adducted thumbs)

147
Q

Pendred

A

AR Hearing loss and hypothryroidism

148
Q

PKD

A

AD polycystic kidneys and kidney underdevelopment

149
Q

Progeria

A

AD, Denovo. premature aging, alopecia, prominent scalp veins

150
Q

Rett

A

XL dominant. normal development with regression and loss of walking/talking in females

151
Q

Rubinstein Taybi

A

AD distinct nose, broad thumbs, ID

152
Q

Septo optic dysplasia

A

underdevelopment of corpus collosum/midbrain, optic atrophy or hypoplasia and pituitary anomolies

153
Q

Treacher collins

A

AD facial hypoplasia, facies, Pierre Robin and normal intellect

154
Q

Usher

A

AR progressive hearing and vision loss (RP)

155
Q

Waardenberg

A

AD white forlock, blue eyes/heterochromia

156
Q

Wolfram

A

AR childhood onset diabetes, hearing and vision loss

157
Q

Sensitivity

A

How often the test is right in people who are affected TP/(TP+FN)

158
Q

Specificity

A

How often the test is right in people who are unaffected TN/(TN+FP)

159
Q

Positive predictive value

A

How often a positive result indicates disease TP/(TP+FP)

160
Q

Negative predictive value

A

how often a negative result indicates lack of disease TN/(TN+FN)

161
Q

5 stages of grief

A

denial, anger, depression, bargaining, acceptance

162
Q

Defense mechanisms

A

denial, regression, repression, reaction formation, intellectualization, projection, sublimation, rationalization, displacement

163
Q

Denial

A

refusing to accept that something occured

164
Q

Regression

A

reversion to an earlier state of development

165
Q

Repression

A

blocking of unwanted feelings or information

166
Q

Reaction formation

A

expressing the opposite emotion of what is actually felt

167
Q

Intellectualization

A

dealing with difficult emotions by trying to gather large amounts of information

168
Q

Projection

A

putting your own feelings onto others

169
Q

Sublimation

A

expressing feelings of sadness or anger in socially acceptable ways

170
Q

Rationalization

A

distortion of the truth to make feelings less scary or overwhelming

171
Q

displacement

A

redirection of emotions to an object that is less threatening

172
Q

Coping strategies

A

confronting, distancing, self-controlling, seeking social support, accepting responsibility, escape-avoidance, planning, positive reappraisal

173
Q

Confronting

A

trying to change the opinion of the person in charge

174
Q

Distancing

A

pretending nothing has happened

175
Q

self-controlling

A

keeping feelings/emotions to oneself

176
Q

seeking social support

A

engaging with others to learn more

177
Q

Accepting responsibility

A

self-criticizing

178
Q

Escape avoidance

A

avoiding unwanted information, hoping for a miracle

179
Q

Planning

A

identifying and following a plan

180
Q

Positive reappraisal

A

identifying existing or potential positive outcomes

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