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BOARD Exam > 100 Disorders > Flashcards

100 Disorders Flashcards

1
Q

Inheritance 1p36.3

A

Sporadic

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2
Q

3 major clinical features 1p36.3

A

Neurodev disabilities, characteristic face (straight eyebrows, deep-set eyes), hypotonia

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3
Q

Inheritance Aarskog Syndrome

A

XLR

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4
Q

3 major clinical features Aarskog Syndrome

A

Dysmorphic Features, Hand abnormalities, GU anomalies

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5
Q

Inheritance Achondroplasia

A

AD

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6
Q

Gene Achondroplasia

A

FGFR3

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7
Q

3 major clinical features Achondroplasia

A

Rhizomelic limb shortening, macrocephaly, trident hands

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8
Q

Characteristic Face Achondroplasia

A

Frontal bossing, Midface hypoplasia

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9
Q

Inheritance AIP

A

AD

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10
Q

3 major clinical features of AIP

A

Acute Attacks: severe neuropathic pain, dark urine, HTN/tachycardia (others!)

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11
Q

What can trigger acute attack in AIP

A

Sulfa drugs, EtOH, Hormones, Infections, Surgery, Smoking, Stress

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12
Q

Treatment for AIP

A

Hemin (Panhematin)

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13
Q

Inheritance Alagille

A

AD

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14
Q

5 ‘organ’ systems affected in Alagille

A

Liver, Heart, Eyes, Skeleton, Face

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15
Q

4 major clinical features Alagille

A

Bile duct paucity, pulmonic stenosis, posterior embryotoxon, butterfly-shaped vertebrae

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16
Q

Inheritance Alpha-1-Antitrypsin Deficiency

A

A-Codominant, AR

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17
Q

3 major clinical features Alpha-1-Antitrypsin Deficiency

A

Lung- emphysema, liver- jaundice, skin- panniculitis

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18
Q

Inheritance alpha thal

A

Complex!

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19
Q

3 major clinical features HbH disease

A

Moderate anemia, hepatosplenomegaly, jaundice

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20
Q

3 major clinical features Hb Barts

A

Hydrops fetalis, severe anemia, hepatosplenomegaly

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21
Q

3 signs seen in women carrying fetus affected with Hb Barts

A

Preeclampsia, premature delivery, abnormal bleeding

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22
Q

Inheritance Alport Syndrome

A

XL (80%), AR (15%), AD (5%)

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23
Q

3 major clinical features Alport

A

Kidney disease, SNHL, eye abnormalities

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24
Q

Inheritance ALS

A

Most sporadic (or AD, AR, XL)

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25
Q

3 major clinical features of ALS

A

Asymmetric limb weakness, bulbar symptoms, muscle atrophy

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26
Q

Inheritance Androgen Insensitivity Syndrome

A

XLR

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27
Q

Features of Complete AIS

A

Externally female, no uterus, undescended testes, sparse pubic hair

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28
Q

Features of Partial AIS

A

Genitalia can be typical/ambiguous, born with male sex characteristics, often infertile, breast enlargement at puberty

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29
Q

Inheritance Angelman Syndrome

A

Imprinted (loss of maternal copy)

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30
Q

Etiologies for Angelman Syndrom

A

Del mat, pat UPD, loss UBE3A gene

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31
Q

3 major features of Angelman Syndrome

A

Severe ID with speech problems, ataxia gait, happy/excitable/laughter

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32
Q

Inheritance Antley-Bixler Syndrome

A

AR

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33
Q

3 major clinical features of Antley-Bixler Syndrome

A

Ambiguous genitalia, skeletal anomalies, chonanal atresia

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34
Q

Signs in pregnant women carrying Antley-Bixler fetus

A

Mild symptoms: hirsutism, acne, deep voice

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35
Q

Antley Bixler Syndrome is due to what enzyme deficiency

A

Cytochrome P450 Oxidoreductase

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36
Q

Inheritance for Ataxia Telangiectasia

A

AR

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37
Q

Hallmark in blood of Ataxia Telangiectasia

A

Elevated AFP

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38
Q

3 major clinical features of A-T

A

Ataxia (before 5), telangiectasis in eyes and skin, increased risk of leukaemia and lymphoma

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39
Q

Inheritance of Ataxia w/ Oculomotor Apraxia

A

AR

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40
Q

3 major clinical features of Ataxia with Oculomotor Apraxia

A

Ataxia, Oculomotor Apraxia, Neuropathy, Chorea

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41
Q

Inheritance of Bardet-Biedl Syndrome

A

AR

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42
Q

3 major features of Bardet-Biedl Syndrom

A

Vision problems, obesity, ID, genital anomalies and anosmia

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43
Q

Inheritance of BMD

A

xlr

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44
Q

3 major clinical features of BMD

A

Muscle weakness, cardiomyopathy, may live into 40s

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45
Q

Inheritance of BWS

A

AD (imprinting)

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46
Q

Etiologies for BWS

A

Imprinting of chromosome 11, paternal UPD of chromosome 11, mutations in CDKN1C

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47
Q

5 clinical features of BWS

A

Macrosomia, Macroglossia, visceromegaly, hemihyperplasia, abdominal wall defect

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48
Q

Increased risk for what kind of cancer in BWS

A

Wilm’s Tumor and hepatoblastoma

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49
Q

Inheritance of Beta-thal

A

AR

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50
Q

Beta that comes to attention at what age?

A

6-12 months

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51
Q

3 major features of infants with beta thal

A

Jaundice, FTT, HSM

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52
Q

3 major features of adults with beta thal

A

Severe anemia with Heinz bodies, BM hypoplasia, splenomegaly

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53
Q

Inheritance of BPES

A

AD

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54
Q

3 major features of BPES

A

Blepharophimosis, Ptosis, Epicanthus Inversus

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55
Q

Inheritance of Bloom Syndrome

A

AR

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56
Q

3 major features of Bloom Syndrome

A

Short stature, butterfly-shaped patch of skin on cheeks, increased risk of cancer

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57
Q

Inheritance of BOR Syndrome

A

AD

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58
Q

3 major features of BOR Syndrome

A

Branchial arch anomalies, ear anomalies with HL, kidney anomalies

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59
Q

Inheritance of Brugada Syndrome

A

AD

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60
Q

Presentation of Brugada Syndrome

A

Ventricular arrhythmia- syncope, seizures, difficulty breathing, sudden death

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61
Q

Inheritance of CADASIL

A

AD

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62
Q

3 major features of CADASIL

A

Migraine with aura, ischemic strokes and TIA, mood/cognitive problems

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63
Q

Inheritance of Canavan Disease

A

AR

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64
Q

Canavan can be characterized as?

A

Leukodystrophy

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65
Q

3 major features Canavan

A

No motor skills, feed/swallowing problems, seizures, sleep problems

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66
Q

Inheritance Cardio-Facial-Cutaneous Syndrome

A

AD

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67
Q

3 major features of Cardio-Facial-Cutaneous Syndrome

A

Heart- Pulmonic stenosis, characteristic face, Skin- wirnkled palms/soles

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68
Q

Inheritance of CMT

A

AD, AR, XL, Mt

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69
Q

3 major features of CMT1A

A

Toe walking, clumsy, foot deformities

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70
Q

Severity of CMT2A compared to CMT1A

A

CMT2A is more severe- earlier onset and require wheelchair

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71
Q

Inheritance of CHARGE syndrome

A

AD

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72
Q

CHARGE stands for what features?

A

Coloboma, Heart defect, Atresia Choanal, Retarded growth, Genital abnormalities, Ear abnormalities

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73
Q

Inheritance Cleidocranial Dysplasia

A

AD

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74
Q

3 major features of Cleidocranial dysplasia

A

Bone- absent clavicles, unusually shaped teeth, dysmorphic face

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75
Q

Inheritance Cockayne Syndrome

A

AR

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76
Q

3 major features of Cockayne Syndrome

A

Microcephaly, photosensitivity, FTT

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77
Q

People with Cockyne Syndrome have life threatening allergy to?

A

Metronidazole (antibiotic)

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78
Q

Inheritance Coffin-Lowry Syndrome

A

XLD

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79
Q

What sex is Coffin-Lowry syndrome more severe in?

A

Males

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80
Q

3 major features of Coffin-Lowry syndrome?

A

Profound ID, characteristic face, stimulus-induced drop episodes

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81
Q

Inheritance of CAH

A

AR

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82
Q

3 major features of classic CAH

A

Decreased fertility, females with hursutism/baldness, irregular menses, lose salt in urine (Females with ambiguous genitalia, males normal genitalia)

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83
Q

Inheritance Congenital Contractural Arachnodactyly

A

AD

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84
Q

3 major features of Congenital Contractural Arachnodactyly

A

Tall/long limbs, arachnodactyly, joint contractors (rarely heart problems)

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85
Q

Severe form of Congenital Contractural Arachnodactyly

A

Includes heart and GI problems- don’t live past infancy

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86
Q

Inheritance of non-syndromic hearing loss

A

Most AR, some AD, few XL or mt

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87
Q

1 clinical feature of non-syndromic hearing loss

A

Partial or total loss of hearing that is not accompanied by any other signs/symptoms

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88
Q

Inheritance Cornelia de Lange Syndrome

A

AD

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89
Q

3 major features of Cornelia de Lange Syndrome

A

Short stature, abnormalities of bones in arms, ID/behavior problems, characteristic face

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90
Q

Inheritance of Costello Syndrome

A

AD (mostly de novo)

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91
Q

3 major features of Costello Syndrome

A

Development problems (FTT, DD), Heart problems (HCM), Characteristic face (curly/sparse hair)

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92
Q

People with Costello syndrome have risk for what kind of tumor

A

Rhabdomyosarcoma or neuroblastoma

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93
Q

Inheritance of Cri du Chat

A

Sporadic (usually)

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94
Q

Deletion in Cri du Chat is where?

A

5p

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95
Q

3 major features of Cri du Chat

A

High-pitched/cat-like cry, microcephaly, low birth weight

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96
Q

Inheritance of CF

A

AR

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97
Q

3 major features of CF

A

Pulmonary problems (chronic infections, breathing problems), GI (pancreatic insufficiency), extra salty sweat, male infertility

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98
Q

Inheritance of Diastrophic Dysplasia

A

AR

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99
Q

3 major features of Diastrophic dysplasia

A

Short stature with very short arms/legs, early-onset osteoarthritis and joint contractors, characteristic face

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100
Q

Inheritance of 22q11

A

Usually de novo

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101
Q

Where is deletion in 22q11?

A

22q11

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102
Q

3 major features of 22q11

A

Velopharyngeal incompetence, CHD, immune deficiency, increased risk for psych problems

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103
Q

Inheritance of DMD

A

XLR

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104
Q

3 major features of DMD

A

Muscle weakness and wasting– wheelchair by adolescence, cardiomyopathy, live into 20s

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105
Q

Inheritance of early-onset Alzheimer’s Disease

A

AD

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106
Q

3 major features of early-onset AD

A

Forgetfulness that interferes with daily life, needing help with personal care, may be personality/behaviour changes

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107
Q

Inheritance of Classic EDS

A

AD

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108
Q

3 major features of Classic EDS

A

Skin hyper extensibility, widened atrophic scars, joint hypermobility

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109
Q

Inheritance of hypermobile EDS

A

AD

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110
Q

3 major features of hypermobile EDS

A

Joint hyper mobility (complain of chronic pain), soft skin, absence of fragility

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111
Q

Inheritance of Vascular EDS

A

AD

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112
Q

3 major features of Vascular EDS

A

Arterial aneurysms, intestinal rupture, uterine rupture during pregnancy

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113
Q

Inheritance of Factor V Leiden Deficiency

A

Number of mutations influences risk

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114
Q

3 major features of Factor V Leiden Deficiency

A

Thrombophilia, increased risk for deep venous thrombosis, slight increased risk of miscarriage

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115
Q

Inheritance of FAP

A

AD

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116
Q

3 major features of FAp

A

Hundreds of colon polyps, increased risk for CRC, desmoid tumors

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117
Q

Lifetime risk of CRC with FAP

A

99%

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118
Q

Start colonoscopies at what age in FAP

A

10-12 yo

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119
Q

Inheritance of Familial Dysautonomia

A

AR

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120
Q

Unique features in Familial dysautonomia

A

Infancy- lack of tears, difficulty maintaining body temp; Kids- hold breath for long time; School age- bed wetting, reduced sensitivity to temperature changes/pain, BP regulation problems; Adult- walking problems, impaired kidney function

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121
Q

Inheritance Familial Mediterranean Fever

A

AR

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122
Q

Major feature in Familial Mediterranean fever

A

Recurrent episodes of painful inflammation in abdomen/chest/ joints

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123
Q

Inheritance of Fanconi Anemia

A

AR (Rarely XLR, AD)

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124
Q

3 major clinical features of Fanconi Anemia

A

BM failure, organ fetch, malformed thumbs/forearms

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125
Q

People with Fanconi Anemia have increased risk for what kind of cancer?

A

Acute myeloid leukaemia, tumors of head/neck/skin/GI

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126
Q

Inheritance of Crouzon Syndrome

A

AD

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127
Q

Inheritance of Apert Syndrome

A

AD

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128
Q

Inheritance of Pfeiffer Syndrome

A

AD

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129
Q

Inheritance of Muenke Syndrome

A

AD

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130
Q

3 major clinical features of Crouzon syndrome

A

Vrachycephaly, cervical spine anomalies, mild shortening of humerus/femora

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131
Q

2 major clinical features of Apert Syndrome

A

Brachycephaly, Mitten-type syndactyly of hands and feet

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132
Q

1 major clinical feature of Pfeiffer syndrome

A

Broad/angulated thumbs and great toes (also type 2- cloverleaf skull)

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133
Q

3 major features of Meunke Syndrome

A

Coronal synostosis, anomalies of hands and feet, hearing loss

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134
Q

Inheritance of Fragile X syndrome

A

XLR

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135
Q

Anticipation in Fragile X syndrome when passed through what parent?

A

Mom

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136
Q

3 major features of Fragile X

A

DD/ID, behaviour problems, dysmorphic face

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137
Q

Risks to Fragile X permutation carriers

A

FXTAS, POI

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138
Q

Premutation repeat number in Fragile X

A

55-200

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139
Q

Full mutation repeat number in Fragile X

A

200+

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140
Q

What trinucleotide repeat is expanded in Fragile X?

A

CGG

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141
Q

Inheritance of Friedreich’s Ataxia

A

AR

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142
Q

3 major features of Friedreich’s Ataxia

A

Ataxia, HCM, DM, scoliosis

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143
Q

What trinucleotide repeat is expanded in Friedreich’s ataxia

A

GAA

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144
Q

Premutation repeat number in Friedreich’s Ataxia

A

34-65

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145
Q

Full mutation repeat number in Friedreich’s Ataxia

A

66-1300

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146
Q

Inheritance of Fryns Syndrome

A

AR

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147
Q

3 major features of Fryns Syndrome

A

Congenital diaphragmatic hernia (pulm hypoplasia), abnormalities of fingers and toes, dysmorphic features)

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148
Q

Inheritance of Greg Cephalopolysyndactyly

A

AD

149
Q

3 major features of Greig Cephalopolysyndactyly

A

Polydactyly, abnormal wide thumb/big toe, cutaneous syndactyly, ID

150
Q

Inheritance of hemophilia A

A

XLR

151
Q

3 major features of hemophilia A

A

long bleeding time when cut, epistaxis, easy bruising, bleeding into joints!

152
Q

Inheritance of hemophilia B

A

XLR

153
Q

3 major features of hemophilia B

A

long bleeding time when cut, epistaxis, easy bruising, bleeding into joints!

154
Q

What factor is deficient in hemophilia A

A

Factor 8

155
Q

What factor is deficient in hemophilia B

A

Factor 9

156
Q

What is more severe: hemophilia A or hemophilia B

A

same severity!

157
Q

Inheritance of hemochromatosis

A

AR

158
Q

3 major features of hemochromatosis

A

Skin discolouration, heart abnormalities, DM, liver disease, arthritis

159
Q

What substance accumulates in tissues in hemochromatosis

A

Iron

160
Q

Inheritance of HBOC

A

AD

161
Q

Largest lifetime risk for female breast cancer with HBOC

A

Up to 85%

162
Q

Risk for ovarian cancer with HBOC

A

BRCA1: 25-60%
BRCA2: 12-25%

163
Q

Other cancer risks in HBOC

A

Prostate, pancreas, melanoma

164
Q

Inheritance of Hereditary Hemorrhagic Telangiectasia

A

AD

165
Q

3 major features of HHT

A

Arteriovenous malformations, mucocutaneous telangiectasis, frequent nosebleeds

166
Q

Inheritance of Hereditary Neuropathy with Liability to Pressure Palsies

A

AD

167
Q

3 major features of HNLPP

A

Recurrent episodes of numbers, pain in limbs, carpal tunnel syndrome

168
Q

Inheritance of Hermansky-Pudlak Syndrome

A

AR

169
Q

3 major features of Hermansky-Pudlak Syndrome

A

Oculocutaneous albinism, coagulation problems, pulmonary fibrosis

170
Q

Inheritance of Hidrotic ectodermal dysplasia

A

AD

171
Q

3 major features of hidrotic ectodermal dysplasia

A

Sparse hair, dystrophic nails, palmoplantar hyperkeratosis

172
Q

Inheritance of Holt Oram

A

AD

173
Q

2 major features of Holt Oram

A

Abnormalities of hands/arms, heart problem (ASD/VSD, conduction disease)

174
Q

Inheritance of HD

A

AD

175
Q

Anticipation occurs in HD when passed through which parent?

A

Dad

176
Q

3 major features of HD

A

Psych, Motor- chorea, Cognitive

177
Q

Premutation repeat number in HD

A

27-35

178
Q

Full mutation repeat number in HD

A

40+

179
Q

What trinucleotide repeat is expanded in HD

A

CAG

180
Q

Inheritance of Hutchinson-Gilford Progeria

A

AD

181
Q

Major feature of Hutchinson-Gilford Progeria

A

Dramatic/rapid appearance of aging in childhood- alopecia, aged-looking skin, arteriosclerosis

182
Q

Inheritance of hypochondroplasia

A

Most de novo

183
Q

3 major features of hypochondroplasia

A

Short-limbed dwarfism, lordosis, bowed legs

184
Q

Inheritance of Hypohidrotic ectodermal dysplasia

A

XLR

185
Q

3 major features of hypohidrotic ectodermal dysplasia

A

Hypohidrosis (hyperthermia!), hypotrichosis, hypodontia

186
Q

Inheritance Incontinentia Pigmenti

A

XLD (lethal in males)

187
Q

4 stages of skin problems in Incontinentia Pigmenti

A

Vesicular– verrucous– pigmentary– atrophic

188
Q

Inheritance of Jervell-Lange-Nielson Syndrome

A

AD

189
Q

2 major features in Jervell-Lange-Nielson Syndrome

A

Hearing loss from birth, Long QT syndrome

190
Q

Inheritance of Joubert Syndrome

A

AR (rarely XL)

191
Q

3 major features of Joubert Syndrome

A

Molar tooth sign on MRI, episodes of usually fast/slow breathing, ataxia

192
Q

Inheritance of Kabuki Syndrome

A

AD, XL

193
Q

3 major features of Kabuki syndrome

A

DD, problems with hip/knee joints, Cleft palate, prominent finger pads

194
Q

Inheritance of Kallman Syndrome

A

XL

195
Q

3 major features of Kallman syndrome

A

Delayed/absent puberty, hypogonadotropic hypogonadism, anosmia

196
Q

Karyotype of Klinefelter Syndrome

A

47, XXY

197
Q

3 major features of Klinefelter Syndrome

A

Small testes, taller than peers, LD, behaviour problems

198
Q

Inheritance of Krabbe Disease

A

AR

199
Q

Enzyme deficiency in Krabbe disease

A

B-galactocerebrosidase

200
Q

3 stages of features in infantile Krabbe

A

1: irritability/spasticity/FTT/dev arrest; 2: neurogeneration/seizures; 3: blind/deaf/unaware

201
Q

Inheritance of Leber Hereditary Optic Neuropathy

A

mitochondrial

202
Q

Major feature of LHON

A

Blurred/cloudy vision

203
Q

Inheritance of LEOPARD Syndrome

A

AD

204
Q

What does each letter stand for in LEOPARD Syndrome

A

Lentigines, Electrocardiographic conduction defects, Ocular hyperelorism, Pulmonary Stenosis, Abnormalities of Genitalia, Retarded growth, Deafness

205
Q

Inheritance of Li Fraumeni Syndrome

A

AD

206
Q

Gene for Li Fraumeni Syndrome

A

TP53 (CHEK2)

207
Q

Lifetime risk of developing cancer with Li Fraumeni Syndrome

A

90%

208
Q

3 major cancer risks with Li Fraumeni Syndrome

A

Sarcoma, breast, osteosarcoma

209
Q

Screening for Li Fraumeni Syndrome

A

Annual full body MRI and CBC

210
Q

Inheritance of Limb-Girdle Muscular Dystrophy

A

AR

211
Q

3 major features of Limb Girdle Muscular Dystrophy

A

Weak thigh muscles, hypertrophy of calf muscles, cardiomyopathy in some

212
Q

Loeys Dietz Inheritance

A

AD

213
Q

3 major features of Loeys Dietz

A

Enlargement of aorta, arterial tortuosity, skeletal abnormalities, skin differences

214
Q

Inheritance of Lynch Syndrome

A

AD

215
Q

Increased risk for what cancers in Lynch Syndrome

A

CRC, endometrial, gastic, ovarian

216
Q

Muir Torre

A

Association of colon cancer with sebaceous gland tumors and keratocanthomas

217
Q

Turcot Syndrome

A

Association of colon cancer and CNS tumors

218
Q

Annual colonoscopy in Lynch syndrome to start at what age?

A

20-25 yo

219
Q

Inheritance of Marfan Syndrome

A

AD

220
Q

3 major features of Marfan Syndrome

A

Tall w/ arachnodactyly, ectopic lentil, aortic aneurysm

221
Q

Inheritance of McCune Albright Syndrome

A

Not inherited-mosaicism

222
Q

3 major features of McCune Albright Syndrome

A

Bone- polyostotic fibrous dysplasia, Skin- CALs with irregular borders, Endocrine- early puberty, thyroid goiter, acromegaly

223
Q

Inheritance of MEN1

A

AD

224
Q

Increased risk for what cancers in MEN1

A

Parathyroid!, pancreas, pituitary, adrenal, neuroendocrine

225
Q

Gene for MEN1

A

MEN1

226
Q

Gene for MEN2

A

RET

227
Q

Inheritance for MEN2

A

AD

228
Q

Increased risk for what cancers in MEN2

A

Medullary thyroid!, pheochromocytoma, papillary thyroid

229
Q

MEN2B additional features

A

Marfanoid body habitus, muchosal neuromas of lips and tongue

230
Q

Prophylactic thyroidectomy at what age in MEN2A

A

Before 6 months

231
Q

Prophylactic thyroidectomy at what age in MEN2B

A

Before 6 years

232
Q

Inheritance of Myotonic Dystrophy

A

AD

233
Q

What trinucleotide repeat is expanded in Myotonic dystrophy

A

CTG

234
Q

Premutation repeat number in Myotonic Dystrophy

A

35-49

235
Q

Full mutation repeat number in myotonic dystrophy

A

> 50

236
Q

3 major clinical features of myotonic dystrophy

A

Progressive muscle weakness/wasting, cataracts, cardiac conduction defects

237
Q

Inheritance of Nemalin Myopathy

A

AR (less often AD)

238
Q

3 major features of Nemalin Myopathy

A

Myopathy of proximal muscles, feeding/swallowing problems, joint contractures

239
Q

Inheritance of NF1

A

AD

240
Q

6 major features of NF1

A

CALs, neurofibromas, inguinal/axillary freckling, optic glioma, Lisch nodules, distinct osseous lesion

241
Q

Inheritance of NF2

A

AD

242
Q

NF2 has growth of non-cancerous tutors, especially:

A

Vestibular schwannomas or acoustic neuromas

243
Q

Inheritance of Noonan Syndrome

A

AD

244
Q

5 major features of Noonan Syndrome

A

Short stature, heart defect- pulmonic stenosis, bleeding problems, skeletal malformations, males with delayed puberty

245
Q

People with Noonan syndrome are at increased risk for what type of cancer

A

Leukemia

246
Q

Inheritance of Oculocutaneous Albinism

A

AR

247
Q

3 major features of oculocutaneous albinism

A

Hypopigmentation, photophobia, reduced visual acuity

248
Q

Inheritance of OI

A

AD (AR less common)

249
Q

3 types and severity of OI

A

Type 1: classic/non-severity, Type 2: perinatal lethal, Type 3: Progressively deforming, Type 4: Common variable with normal sclera

250
Q

4 major features of OI

A

Brittle bones, blue sclera, dentinogenesis imperfecta, hearing loss in adulthood

251
Q

Inheritance of Parkinson’s disease

A

Sporadic (or AD or AR)

252
Q

3 major features of Parkinson’s disease

A

Tremor, rigidity, braykinesia (can have psych conditions)

253
Q

What gene is a risk factor for (but is not independently responsible for) Parkinson’s disease

A

LRRK2

254
Q

Inheritance of Pendred Syndrome

A

AR

255
Q

3 major features of Pendred syndrome

A

SNHL at birth, enlarged vestibular aqueduct (EVA), goiter

256
Q

Inheritance of Polycystic Kidney Disease

A

AD (biallelic mutations cause more severe disease)

257
Q

3 major features of PKD

A

Cysts in kidneys (and liver), HTN, increased risk of aneurysm

258
Q

Inheritance of Prayer Willi Syndrome

A

Sporadic

259
Q

Where is deletion in Prader Willi Syndrome?

A

15p11-13

260
Q

Etiologies for Prader Willi Syndrome?

A

Del of paternal 15p or maternal UPD of chromosome 15

261
Q

3 major features of PWS

A

Intantile hypotonia and FTT, hyperphagia and obesity, hypogonadism

262
Q

Inheritance of Cowden Syndrome

A

AD

263
Q

Gene for Cowden Syndrome

A

PTEN

264
Q

Increased risk for what cancers in Cowden syndrome?

A

Breast, endometrial, thyroid

265
Q

Skin triad seen in Cowden syndrome

A

Facial trichillemommas, aural keratosis, papillomatous papules

266
Q

Inheritance of Rett Syndrome

A

XLD (lethal in males)

267
Q

3 major features of Rett syndrome

A

Developmental regression, hand wringing/clapping, seizures

268
Q

Inheritance of Rubinstein-Taybi Syndrome

A

AD (most de novo)

269
Q

3 major features of Rubinstein-Taybi Syndrome

A

ID, broad thumbs/first toes, eye/heart/kidney defects

270
Q

People with Rubinstein-Taybi syndrome are at increased risk for what type of cancer?

A

Brain tumors, leukemia

271
Q

Inheritance of Saethre-Chotzen syndrome

A

AD

272
Q

Etiologies of Saethre-Chotzen Syndrome

A

Mutation in TWIST1 or del 7p21

273
Q

3 major features of Saethre-Chotzen Syndrome

A

Craniosynostosis, Dysmorphic face, fusion of skin between 1st/2nd finger (usually normal intelligence)

274
Q

Inheritance of Smith Magenis Syndrome

A

Sporadic

275
Q

Where is deletion in Smith Magenis Syndrome

A

17p11.2

276
Q

3 major features of Smith Magenis syndrome

A

DD/ID, Behaviour- self injury and lick/flip, sleep disturbances

277
Q

Inheritance of Sotos Syndrome

A

AD (most de novo)

278
Q

3 major features of Sotos Syndrome

A

Overgrowth in childhood, DD and behaviour problems, characteristic face

279
Q

Inheritance of SMA

A

AR

280
Q

3 major features of SMA

A

DD, unable to support head/sit unassisted, breathing and swallowing problems

281
Q

What can modify the SMA phenotype?

A

Number of functional SMN2 copies

282
Q

Inheritance of Syndromic Congenital Muscular Dystrophy

A

AR (sometimes AD)

283
Q

3 major features of Syndromic Congenital Muscular Dystrophy

A

Muscle weakness at birth, delayed motor development with joint rigidity–> joint contractors, spinal deformities, respiratory compromise

284
Q

Inheritance of Tay Sachs Disease

A

AR

285
Q

3 major features of Tay Sachs Disease

A

Loss motor skills, seizures/regression, die in early childhood

286
Q

Gold standard for diagnosis of Tay Sachs

A

HEXA enzyme analysis

287
Q

Gold standard for diagnosis of CF

A

Sweat test

288
Q

Inheritance of Transient Neonatal Diabetes Mellitus

A

Can be AR, AD, or sporadic

289
Q

Etiologies for Transient Neonatal Diabetes Mellitus

A

Pat UPD, dup on chromosome 6, mutation in ZFP57

290
Q

3 major features of Transient Neonatal Diabetes Mellitus

A

IUGR, Hyperglycemia and dehydration, ends after neonatal period

291
Q

Inheritance of Triploidy

A

Sporadic

292
Q

Karyotype for triploidy

A

69, XXX

293
Q

Triploidy usually a result of extra paternal or maternal chromosomes?

A

Paternal

294
Q

Signs in pregnant woman of triploidy fetus with extra paternal set

A

Cystic placenta, partial mole, IUGR, syndactyly

295
Q

Signs in pregnant woman of triploidy fetus with extra maternal set

A

Small placenta, IUGR

296
Q

Inheritance of T13

A

Usually sporadic

297
Q

Karyotype for T13

A

47, XX, +13

298
Q

3 major features of T13`

A

Midline defects: HPE, polydactyly, CL+P

299
Q

Inheritance of T18

A

Usually sporadic

300
Q

Karyotype of T18

A

47, XX, +18

301
Q

3 major features of T18

A

Hypertonia, clenched fist with overlapping fingers, rocker bottom feet

302
Q

Sign in pregnancy of T18 fetus

A

Polyhydramnios

303
Q

Inheritance of T21

A

Usually sporadic (4% Rob)

304
Q

Karyotype of T21

A

47, XX, +21

305
Q

3 major features of T21

A

Hypotonia, CHD, characteristic face

306
Q

Inheritance of Tuberous Sclerosis

A

AD

307
Q

Organ systems affected in Tuberous Sclerosis

A

Skin, Kidney, Lung, Heart, Brain

308
Q

4 skin findings in Tuberous Sclerosis

A

Ash leaf spots, shagreen patches, facial angiofibromas, inguinal fibromas

309
Q

What is in brain of Tuberous Sclerosis patient and how does it affect phenotype

A

Cortical Tubers; the higher the number the higher the cognitive impairment

310
Q

Inheritance of Turner Syndrome

A

Sporadic

311
Q

Karyotype for Turner Syndrome

A

45, X

312
Q

3 major features of Turner Syndrome

A

Short stature, gonadal dysgenesis, CHD in half

313
Q

What treatment should be given to girls with Turner Syndrome

A

Estrogen replacement therapy

314
Q

What treatment should be given to boys with Klinefelter syndrome

A

Testosterone supplementation

315
Q

Usher Syndrome Inheritance

A

AR

316
Q

3 major features of Usher Syndrome

A

Hearing loss, retinitis pigments, vestibular system abnormalities

317
Q

Inheritance of VACTERL Syndrome

A

Sporadic (sometimes multifactorial)

318
Q

What does each letter in VACTERL stand for?

A

Certebral facts, Anal atresia, Cardiac facts, Tracheo-Esophageal fistula, Renal anomalies, Limb anomalies

319
Q

Inheritance of VHL

A

AD

320
Q

Gene in VHL

A

VHL

321
Q

What is the lifetime risk of renal cancer in VHL?

A

40%

322
Q

What cancers are at an increased risk in VHL?

A

Renal, hemangioblastoma, pheochromocytoma

323
Q

Ophthalmology exams start at what age for screening for VHL?

A

5 yo

324
Q

CNS imaging by MRI is annual in screening for VHL, starting at what age?

A

11 yo

325
Q

Inheritance of Waardenburg Syndrome

A

AD

326
Q

3 major features of Waardenburg syndrome

A

SNHL, partial albinism/white forelock, blue eyes (or Dif color)

327
Q

Inheritance of William’s Syndrome

A

Usually sporadic

328
Q

Where is deletion in William’s Syndrome

A

7q11.23

329
Q

3 major features of William’s Syndrome

A

Outgoing personality, Elfin face, Supravalvular aortic stenosis

330
Q

Inheritance of Wilson’s disease

A

AR

331
Q

What substance accumulates in tissues in Wilson’s disease

A

Copper

332
Q

3 major features of Wilson’s disease

A

Liver disease with jaundice, movement disorders, Kayser-Fleischer rings, psych symptoms

333
Q

Inheritance of Wolf-Hirschhorn Syndrome

A

Sporadic

334
Q

Where is deletion in Wolf-Hirschhorn syndrome?

A

4p16.3

335
Q

3 major features of Wolf Hirschhorn Syndrome

A

Delayed growth and development, ID, Greek Warrior helmet

336
Q

Inheritance of Xeroderma Pigmentosum

A

AR

337
Q

2 major features of Xeroderma Pigmentosum

A

Extreme sensitivity to UV rays from sunlight, progressive neurologic abnormalities

338
Q

People with Xeroderma Pigmentosum have increased risk for what type of cancer?

A

Skin

339
Q

Smokers with Xeroderma Pigmentosum have increased risk for what type of cancer?

A

Brain and Lung

340
Q

Inheritance of XL Adrenal Hypoplasia Congenita

A

XL

341
Q

3 major features of XL Adrenal Hypoplasia Congenital

A

Adrenal insufficiency- vomiting, hypoglycaemia; hypogonadotropic hypogonadism

342
Q

Inheritance of XL Adrenoleukodystrophy

A

XLR

343
Q

Major features of Xl adrenoleukodystrophy

A

Males have initially normal dev–behavior/attention changes–problems in school– loss of vision and comprehension, adrenocortical insufficiency

344
Q

People with XL Adrenoleukodystrophy cannot metabolize?

A

Very long chain fatty acids (VLCFA)

345
Q

Inheritance of X-linked Agammaglobulinemia

A

XL

346
Q

Major feature of XL Agammaglobulinemia

A

B cell deficiency- recurrent infections

347
Q

Inheritance of Pallister Hall Syndrome

A

AD

348
Q

3 major clinical features of Pallister Hall Syndrome

A

Fingers- poly/syndactyly, Brain- hypothalamic hamartoma, airway- bifid epiglottis (Also GU anomalies)

349
Q

Most important thing to treat in Pallister Hall

A

Endocrine abnormalities, especially cortisol

350
Q

Inheritance of Pallister Killian Syndrome

A

Not inherited- mosaic

351
Q

What is the karyotype with Pallister Killian Syndrome

A

46, XX/ 47, xx, + i(12p)

352
Q

3 major features of Pallister Killian Syndrome

A

Hypotonia, DD, sparse hair, abnormal pigmentation, supernumerary nipples, coarse face (more!)

353
Q

Inheritance of WAGR syndrome

A

Sporadic

354
Q

Genetic mutation in WAGR syndrome

A

Deletion of 11p

355
Q

What does WAGR stand for?

A

Wilm’s Tumor, Aniridia, GU anomalies, Retardation- ID

356
Q

What does WAGRO stand for?

A

Wilm’s Tumor, Aniridia, GU anomalies, Retardation- ID, Obesity

357
Q

Inheritance of Weaver Syndrome

A

AD

358
Q

3 major features of Weaver Syndrome

A

Overgrowth, ID, characteristic face, contractors of fingers/toes

359
Q

Inheritance of Kennedy’s Disease

A

XLR

360
Q

Mutation in Kennedy’s Disease

A

CAG trinucleotide repeat expansion (>35)

361
Q

3 major features of Kennedy’s Disease

A

Muscle weakness and wasting- cramps, difficulty walking, problems with feeding/swallowing; gynocomastia, infertility

362
Q

Inheritance of Proteus syndrome

A

Not inherited- mosaic

363
Q

3 major features of Proteus syndrome

A

Overgrowth, cerebriform connective tissue nevus on feet, ID, increased risk of pulmonary embolism

364
Q

What does OEIS stand for?

A

Omphalocele, extrophy of cloaca, imperforate anus, spinal defects

365
Q

Inheritance of Simpson-Galabi-Behmel Syndrome

A

XLR

366
Q

3 major features of Simpson-Galabi-Behmel Syndrome

A

Overgrowth, abdominal anomalies, increased with for Wilm’s tumor and neuroblastoma, coarse face

367
Q

Inheritance of I cell Disease

A

AR

368
Q

3 Major features of I cell Disease

A

Poor growth and development, hypotonia, bone abnormalities, death in early childhood

BOARD Exam (28 decks)

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