Key Symptoms Flashcards
1
Q
Valproic acid/anti-convulsant exposure
A
NTD’s (myelomeningecele)
2
Q
Maternal diabetes
A
Caudal Regression
3
Q
Trisomy 13
A
Holoprosencephaly
4
Q
Trisomy 18
A
Limb anomolies (rocker bottom feet, clenched fists) Choroid plexus cysts
5
Q
Cat Eye Syndrome
A
Marker 22, coloboma CHD, ear pits/tags
6
Q
Triploidy
A
Cystic placenta
7
Q
Turner
A
45X, Paternal Meiosis, Webbed neck, streaked ovaries, horseshoe kidneys, aortic stenosis/coarctation
8
Q
Klinefelter
A
47XXY, Maternal or paternal meiosis 1 Tall stature, feminization at puberty
9
Q
BWS
A
Paternal UPD 11p15 or maternal mutations. Macroglossia, macrosomia, ear pits (in helices)
10
Q
Angelman
A
Paternal UPD 15q11 or maternal mutations in UBE3A. “happy puppet”, fascination with water
11
Q
PWS
A
Maternal UPD 15q11 or paternal deletions in UBE3A. Obesity, excessive eating (obsessive), PICO behaviors
12
Q
Wolf-Hirschorn
A
4p deletion, greek warrior helmet
13
Q
Russel-Silver
A
Maternal UPD 11p5 or paternal mutations. Triangular face with delicate features
14
Q
Cri-Du-Chat
A
5p-, cat like cry
15
Q
Williams Syndrome
A
7q-, Cocktail personality, cardiac defects
16
Q
Smith-Magenis
A
17p-, Sleep disturbances, ear anomalies, behavioral disturbances, strabismus
17
Q
Miller-Deiker
A
17p13 deletion, Lissencephaly
18
Q
Digeorge
A
22q deletion, heart defects, thymus/immune problems, hypocalcemia, ear tags/pits
19
Q
Alkaptonuria
A
AR, black urine
20
Q
Homocysteinuria
A
Like marfan, can have DD/ID
21
Q
MSUD
A
AR, Maple-syrup urine
22
Q
PKU
A
AR, musty smell, mousy hair
23
Q
Tyrosinemia
A
AR, rickets, cabbage smell
24
Q
Fatty acid oxidation disorders
A
AR Crisis during fasting, illness or after high fat consumption, hypoketotic hypoglycemia
25
Galactosemias
AR Cataracts begin before return of NBS results because of maternal milk
26
GSD
AR Muscle weakness, fasting crisis (different from FAO- need high fat diets for treatment)
27
Pompe
AR similar to limb-girdle MD (except neonatal onset)
28
Fabry
XL Corneal whorl, fabry crisis, HCM
29
Gaucher type 1 (typically)
AR Erlenmeyer flask deformity, gaucher cells, bone crisis
30
Gaucher type 2
AR no bone crisis, neurological complication
31
Gaucher type 3
AR oculomotor apraxia
32
Krabbe
AR Irritibility with quickly progressive psychomotor deterioration
33
MPSII and III (hunter and san fillipo)
Clear corneas, Type II is XL
34
MPS IV and VI (Morquio and Mariteaux Lamy)
Normal cognition
35
MPS III
Most mild skeletal phenotype
36
MPS IV
Most severe skeletal phenotype
37
Tay-Sachs
AR Cherry Red spot ( also seen in Neimann-Pick A) Progressive psychomotor deterioration
38
Isovaleric acidemia
AR Smells like sweaty socks
39
Urea cycle disorders
AR (except OTC) Protein aversion, hyperammonemia, respiratory alkalosis
40
Arginase deficiency
AR Only urea cycle disorder where hyperammonemia is rarely present
41
Canavan
AR Head lag, hypotonia and macrocephaly
42
Hemochromotosis
AR excess iron
43
SLO
AR elevated 7-dehydroxy cholesterol
44
Wilson's
AR Elevated copper and kaiser fleisher rings
45
Carney Complex
AD Myxomas, psammomatous melanotic schwannoma, spotty skin
46
HBOC
AD Breast, ovarian, prostate and pancreas, less than 50
47
FAP
AD hundreds of polyps
48
HNPCC
AD colon, uterine, ovarian and other GI
49
Gardner
AD FAP with desmoids
50
Li fraumeni
AD ACC, CPC, sarcoma and breast under 35
51
MEN1
AD parathyroid, pituitary and pancreas (3 P's)
52
MEN2A
AD Medullary thyroid cancer, Pheo's
53
MEN2B
AD young medullary thyroid cancer, pheo, marfanoid stature, mucosal neuromas
54
NF2
AD Bilateral vesibular schwanomas
55
PTEN
AD Breast, uterine, thyroid, macrocephaly, autism and penile freckling
56
Lhermitte-Duclose (seen in PTEN)
dysplastic gangliocytoma of the cerebellum
57
TSC
AD cardiac rhabdomyoma, shagreen patch, confetti skin
58
VHL
AD Clear cell renal cancer, renal and pancreatic cysts, pheos and paras
59
Arrhythmia/cardiomyopathy
Sudden death, fainting and symptoms with exercise or strong emotions
60
CADASIL
AD strokes
61
Jervell and lange neilson syndrome
AR LQTS with deafness
62
CF
AR mucus in the lungs, pancreas and infertility in men
63
chromosomal breakage disorders
Increased risk for cancer sensiitive to ionizing radiation (not cockayne)
64
Bloom
AR Small stature, high pitched voice, butterfly skin lesions
65
Cockayne Syndrome
AR Cachetic dwarfism, premature aging, neurologic deterioration with early death.
66
Fanconi anemia
AR and XL skeletal abns (fingers and thumbs) short stature, pancytopenia
67
Werner
AR Premature aging, early onset of age related illnesses, (diabetes, atherosclerosis, etc.)
68
Xeroderma Pigmentosum
AR Sun results in skin cancer with minimal exposure
69
Bardet-Biedl
AR/Digenic recessive Polydactyly, RP, renal problems
70
Joubert
XL/AR Molar tooth sign on MRI, ataxia, oculomotor apraxia
71
Meckel-Gruber
AR Polydactyly, lethal in utero, multi-system malformation and CNS malformations
72
Hemophilia
XLR excessive bleeding
73
Factor V
XLR Excessive clotting
74
Von Willebrand
AD (most) can be AR. Easy bruising/bleeding
75
OI
AD brittle bones, easy fracturing
76
OI type II
AD Severe, perinatal lethal
77
Alpha thal
Digenic, variable. hydrops, HbH disease, microcytic hypochromic anemia
78
Beta thal
AR microcytic hypochromic anemia, bone deformities
79
sickle cell
AR sickle cell crisis, acute chest syndrome, dactylitis
80
Mito
poor growth, excercise intolerance, hearing and vision loss, ID, learning disabilities, seizures, strokes
81
Barth
XL dilated cardiomyopathy, neutropenia
82
Leigh
XL, AR and Mito. rapid and lethal lactic acidosis, cardiopulmonary failure
83
POLG
AR or AD psych issues, parkinsonism, mito syndromes
84
Mito deletion disorders
MITO KSS, pearson, CPEO and leigh
85
ALS
AD motor neuron deterioration
86
CMT
AD, AR and XL Foot drop and muscle wasting
87
DMD
X-linked muscle wasting, early death in boys, caused by out of frame deletoins
88
BMD
X-linked muscle wasting less severe than DMD, in frame deletions
89
FSHD
AD Large deletion of 4q35 scapular winging, slowly progressive
90
Limb girdle
AD, AR. Late onset (10-30) muscle wasting
91
Nemaline Myopathy
AD and AR. AJ and Amish, muscle weakness and wasting, ranges from severe, congenital with early death to mild
92
Walker Warburg
AR most severe congenital muscular dystrophy, death by age 3
93
KTW
Somatic. Port wine stain, hemihypertrophy
94
Proteus
overgrowth, somatic mutation
95
Simpson-golabi-behmel
XL overgrowth, 'bulldog syndrome'
96
Sotos
AD, mostly de novo. Sparse hair, pointed chin, overgrowth, flushed cheeks
97
Weaver
AD. Rapid continuous growth, hoarse cry as babies, coarse features
98
Cardio-facio-cutaneous
AD. Skin abns, chd, craniofacial abns
99
Costello
AD. ID, HC\< pulmonic stenosis, rhabdomyosarcoma and neuroblastoma
100
NF1
AD. Lisch nodules, CAL, neurofibromas, optic glioma
101
Legius
AD. NF1 symptoms minus lisch and neurofibromas
102
Noonan
AD. 'male turner', webbed neck, pulmonic stenosis, short stature
103
LEOPARD
AD. noonan with multiple lentigines
104
Fragile X
XL. large ears, large testicles, maternal anticipation, 5' UTR expansion (no mutation 45, premutation 55-200, mutation \>200)
105
Fragile x premutation
males get FXTAS, females FXPOI
106
Freidriech ataxia
only AR repeat expansion, ataxia, cardiac concerns, intronic expansions
107
HD
AD. chorea, psychomotor retardation, paternal anticipation, exonic expansions
108
DM
AD cataracts, balding, muscular dystrophy, maternal anticipation, 3'UTR repeats
109
Congenital DM
More repeats, more severe
110
Spinal bulbar muscular atrophy
XL Allelic to androgen insensitivity, muscular atrophy with endocrine disfunction, repeat expansion
111
Spinocerebellar ataxia
AD ataxia, chorea, cerebellar atrophy, repeat expansion
112
21-hydroxylase deficiency
AR salt wasting, virilization, ambiguous genitalia
113
Kallman
XL hypogonadotrophic hypogonadism and anosmia
114
X-linked adrenal hypoplasia congenita
XL acute adrenal insufficiency, hypogonadotrophic hypogonadism
115
achondroplasia
AD most common form of dwarfism, 98% due to a point mutation in FGFR3
116
FGFR2 disorders
AD antley-bixler, apert, pfeiffer, crouzon, craniosynostosis and bulging eyes
117
Pfeiffer
AD cloverleaf skull, can be sporadic, severe and lethal
118
Cleidocranial dysplasia
AD absent clavicles
119
diastrophic dysplasia
AR dwarfism, unusual club foot and hitchhiker thumb
120
hypochondroplasia
AD less severe than achondroplasia (a=absent v. hypo= less)
121
Mccune albright
Somatic post-zygotic, mosaic. coast of maine CAL, fibrous dysplasia
122
Muenke
AD craniosynostosis, hearing loss, FGFR3
123
Multiple exostosis
AD multiple osteochondromas
124
saethre-chotzen
AD craniosynostosis, acrocephaly, TWIST1
125
thanatophoric dysplasia
AD, de novo. cloverleaf skull, severe dwarfism, lethal at/shortly after birth
126
Aarskog
XL faciogenital dysplasia, shawl scrotum
127
X-linked agammaglobulinemia
XL severe immune deficiency
128
Alagille
AD bile duct paucity, butterfly vertebrae, postoerior embryotoxon
129
alport
AD, AR, XL kidney problems and hearing loss
130
Brachio-oto-renal
AD brachial cleft cyst, hearing loss, renal anomolies
131
CHARGE
AD coloboma, heart, choanal atresia, growth delay, genitourinary anomolies, ear
132
coffin-lowry
XL X-linked, can affect females; severe ID, heart problems, growth anomolies, auditory/visual problems
133
Coffin-Siris
AR, AD. severe ID, hypoplastic thumb nails
134
Cohen
AR obesity, sociable personality, ID visual anomolies
135
Corneila De lange
AD, XL. synophrys, hirsuitism, limb reduction defects, ID
136
Diamond blackfan anemia
AD, XL. anemia, heme malignancy, klippel-feil anomaly, hand deformaties
137
Familial dysautonomia
AR. AJ, no tears, pain and temperature sensation anomalies, dysautonomia crisis
138
Familial mediterranean fever
AR recurrent autoinflammatory episodes, kidney failure, colchicine treatment
139
Fryns
AR. diaphragmatic hernia, death in neonate
140
Goldenhar
Unknown. hemifacial microsomia with visceral organ underdevelopment, UNILATERAL hearing and vision loss
141
Greig Cephalopolysyndactyly
AD macrocephaly, poly/syndactyly
142
Hay-wells
AD ectodermal dysplasia, fusion of eyelids
143
Holt-oram
AD limb reduction defects, heart problems, thalidomide phenocopy
144
Incontinentia pigmenti
XL skin blistering, wart-like rash, macular hyperpigementation and alopecia
145
Kabuki
AD pleasant personality, ID, facies
146
L1 syndrome
XL hydrocephalus, MASA (MR, aphasia, spastic paraplegia, adducted thumbs)
147
Pendred
AR Hearing loss and hypothryroidism
148
PKD
AD polycystic kidneys and kidney underdevelopment
149
Progeria
AD, Denovo. premature aging, alopecia, prominent scalp veins
150
Rett
XL dominant. normal development with regression and loss of walking/talking in females
151
Rubinstein Taybi
AD distinct nose, broad thumbs, ID
152
Septo optic dysplasia
underdevelopment of corpus collosum/midbrain, optic atrophy or hypoplasia and pituitary anomolies
153
Treacher collins
AD facial hypoplasia, facies, Pierre Robin and normal intellect
154
Usher
AR progressive hearing and vision loss (RP)
155
Waardenberg
AD white forlock, blue eyes/heterochromia
156
Wolfram
AR childhood onset diabetes, hearing and vision loss
157
Sensitivity
How often the test is right in people who are affected TP/(TP+FN)
158
Specificity
How often the test is right in people who are unaffected TN/(TN+FP)
159
Positive predictive value
How often a positive result indicates disease TP/(TP+FP)
160
Negative predictive value
how often a negative result indicates lack of disease TN/(TN+FN)
161
5 stages of grief
denial, anger, depression, bargaining, acceptance
162
Defense mechanisms
denial, regression, repression, reaction formation, intellectualization, projection, sublimation, rationalization, displacement
163
Denial
refusing to accept that something occured
164
Regression
reversion to an earlier state of development
165
Repression
blocking of unwanted feelings or information
166
Reaction formation
expressing the opposite emotion of what is actually felt
167
Intellectualization
dealing with difficult emotions by trying to gather large amounts of information
168
Projection
putting your own feelings onto others
169
Sublimation
expressing feelings of sadness or anger in socially acceptable ways
170
Rationalization
distortion of the truth to make feelings less scary or overwhelming
171
displacement
redirection of emotions to an object that is less threatening
172
Coping strategies
confronting, distancing, self-controlling, seeking social support, accepting responsibility, escape-avoidance, planning, positive reappraisal
173
Confronting
trying to change the opinion of the person in charge
174
Distancing
pretending nothing has happened
175
self-controlling
keeping feelings/emotions to oneself
176
seeking social support
engaging with others to learn more
177
Accepting responsibility
self-criticizing
178
Escape avoidance
avoiding unwanted information, hoping for a miracle
179
Planning
identifying and following a plan
180
Positive reappraisal
identifying existing or potential positive outcomes
