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BOARDS > GET IN YOUR BRAIN > Flashcards

GET IN YOUR BRAIN Flashcards

1
Q

Increased Leucine on PAA

A

MSUD

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2
Q

Defects in biotin metabolism cause

A

biotinidase deficiency and propionic acidemia

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3
Q

Primary lactic acidosis

A

Electron Transport Chain (ETC) - mito defects.

Pyruvate dehydrogenase deficiency

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4
Q

Hiccuping and apnea

A

Nonketotic hyperglycinemia

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5
Q

Hyperammonemia

A

Urea cycle disorders

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6
Q

Severe acidosis

A

Organic acidemias

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7
Q

Lethargy and seizures

A

MSUD

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8
Q

Jaundice, hypoglycemia, liver failure, hepatomegaly, vomiting

A

Galactosemia

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9
Q

Hypoglycemia, weakness, cardiac

A

FAOD

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10
Q

Hypoglycemia and circulatory collapse

A

CAH

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11
Q

Respiratory alkalosis (Tacypnea), vomiting and lethargy, NOT ACIDOTIC

A

Urea cycle disorders

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12
Q

Elevated C3 acylcarnitine measured in NBS

A

Propionic acidemia and methylmalonic acidemia

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13
Q

Elevated C5 acylcarnitine measured on NBS

A

Isovaleric acidemia

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14
Q

Liver failure, E. coli sepsis

A

Galactosemia

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15
Q

Dysostosis Multiplex

A

LSD’s - typically MPS

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16
Q

Erlenmeyer flask defomity

A

Gaucher

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17
Q

Sphingomyelinase deficiency

A

Types A and B of Niemann Pick

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18
Q

Cholesterol trafficking defect

A

Type C of Niemann Pick

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19
Q

Palsy of upward gaze

A

Type C of Niemann Pick

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20
Q

Spinal “gibbus” - kink in spine

A

MPS

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21
Q

Earliest onset and most severe MPS

A

MPS I - Hurler Scheie

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22
Q

No corneal clouding and X-linked MPS

A

Hunter

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23
Q

More neurologic symptoms (frequently have behavioral problems with progression to severe neurologic disease) - mildest somatic symptoms of the MPS

A

MPS III - Sanfilippo

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24
Q

Most severe skeletal disease, normal intelligence (MPS)

A

MPS IV - Morquio

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25
Q

Usually normal intelligence, Arylsulfatase B deficiency (MPS)

A

MPS VI - Maroteaux-Lamy

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26
Q

Most severe cases characterized by hydrops fetalis (MPS)

A

MPS VII - Sly

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27
Q

Glycogen debrancher deficiency; progressive hypertrophic cardiomyopathy

A

GSD III: Forbes, Cori disease

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28
Q

Phosphorylase kinase deficiency (GSD IX) inheritance

A

X-LINKED

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29
Q

Hepatosplenomegaly, FTT, progressive cirrhosis, liver failure, myopathy/cardiomyopathy

A

Anderson disease (GSD IV): different phenotype from other hepatic glycogenoses

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30
Q

Hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, poor growth, +/- myopathy

A

Clinical presentation of Hepatic GSD

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31
Q

Vitamin B6 therapy

A

Homocystinuria

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32
Q

Vitamin B12 therapy

A

Methylmalonic aciduria

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33
Q

Thiamin therapy

A

MSUD

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34
Q

Tetrahydrobiopterin therapy

A

PKU and tetrahydrobiopterin deficiency (also provide DOPA for this one - not for PKU)

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35
Q

Fragile X inheritance

A

FMR1 - X-Linked Dominant

CGG repeats in 5’ untranslated region

200+ repeats = disorder (at this number FMR1 gene becomes methylated and fails to produce Fragile X MR protein [FMRP])

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36
Q

Normal number of repeats in FMR1

A

<45 = unaffected, make all the protein needed

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37
Q

Chance that a premutation 69 or lower would expand to a full mutation

A

<6%

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38
Q

Chance that a premutation 100 or higher would expand to a full mutation

A

94-100%

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39
Q

Lack of CFTR leads to

A

abnormal epithelial ion and fluid transport

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40
Q

Class I CFTR mutation

A

Null production - frame shifts, premature term (G542X, R553X, W1282X) [Worst]

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41
Q

Class II CFTR mutations

A

Trafficking - missense deltaF508, N1303K

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42
Q

Class III CFTR mutations

A

Regulation - Missense G551D

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43
Q

Class IV CFTR mutations

A

Conduction - Conservative Missense R117H [Best]

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44
Q

Chronic respiratory infections, exocrine pancreatic insufficiency, Intestinal obstruction/meconium ileus, male sterility, diabetes, progressive obstructive liver disease

A

Cystic fibrosis

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45
Q

Class I, II, and III mutations vs. Class IV and V mutations

A

Class I, II, and III mutations have essentially absent CFTR function and are associated with a more severe phenotype with pancreatic insufficiency

Class IV and V mutations retain partial CFTR function and are associated with a more mild phenotype with pancreatic sufficiency

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46
Q

CBAVD (Congenital bilateral absence of the vas deferens)

A

Otherwise healthy male presents for evaluation of infertility

Normally have normal lung function, BMI, negative sweat test

Male with CBAVD should be screened for CFTR mutations, especially uncommon mutations

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47
Q

Mannose binding lectin and TGFB

A

modifiers of pulmonary disease in CF

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48
Q

Increased incidence of CFTR mutations in general population with

A
  • Asthma
  • Chronic Rhinosinusitis
  • Idiopathic pancreatitis
  • Primary sclerosing cholangitis
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49
Q

Basic tenets of taking care of a patient with CF

A
  • CF is a nutritional disease (before enzymes, most kids with CF died of malnutrition)
  • CF is a disease of airway clearance
  • CF is a disease of epithelial ion transplant (too much salt in sweat, respiratory glandular obstruction, intestinal obstruction, biliary cholestasis, exocrine pancreatic insufficiency)
  • CF is a disease of inflammation
  • CF-related diabetes
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50
Q

Neonatal hypoparathyroidism and immunodeficiency

A

22q

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51
Q

Immunodeficiency, CHD, palate defects, hypocalcemia, GU anomalies, GI problems, DD, psychiatric illness

A

22q

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52
Q

Conotruncal heart defects

A

22q (TOF, VSD, IAA typeB)

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53
Q

In frame deletions of FBN1 usually have a _

A

more severe phenotype

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54
Q

Brushfield spots

A

T21

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55
Q

hypertonia, prenatal growth deficiency, fists clenched, rocker-bottom feet, severe heart malformations, feeding difficulties

A

T18

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56
Q

Microcephaly, sloping forhead, fist clenching, rocker-bottom feet, severe CNS malformations, CHD

A

T13

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57
Q

Repeat expansion in Huntington

A

CAG in HTT; Coding region in exon 1

26 or less is normal

27-35 is intermediate

36-39 repeats is reduced penetrance

40+ is full mutation

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58
Q

Anticipation seen in HD

A

more commonly when paternally inherited

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59
Q

Agents to avoid in HD

A

L-dopa-containing compounds, alcohol consumption, and smoking

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60
Q

Sickle cell disease = homozygous

A

HbSS

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61
Q

Anterior horn cells

A

SMA - loss of anterior horn cells in the spinal cord

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62
Q

SMN1 deletions

A

cause SMA (usually deletion of exon 7)

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63
Q

SMN2 determines

A

prognosis (dosage: # copies 0-5; 3+ = milder)

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64
Q

Why should you avoid prolonged fasting in SMA

A

unexplained metabolic acidosis is a potential complication of SMA

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65
Q

Why is the lifespan shortened in SMA

A

progressive ventilatory insufficiency resulting from chest muscle involvment

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66
Q

UBA1

A

gene associated with X-linked SMA

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67
Q

Female heterozygote carriers for DMD at an increased risk for

A

DCM

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68
Q

In frame deletions of DMD

A

Becker

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69
Q

Out of frame deletions of DMD

A

Duchenne

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70
Q

Testing used for immunohistochemistry of dystrophin

A

Western blot

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71
Q

DMD associated DCM is characterized by

A

left ventricular dilation and congestive heart failure

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72
Q

_ complications are common causes of death in DMD and BMD

A

Respiratory and cardiomyopathy complications

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73
Q

Myxomas

A

Carney Complex

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74
Q

Psammamatous, melanotic schwannomas, thyroid cancer, skin tags, lipomas, blue nevi, cafe au lait spots, thyroid nodules, cardiomyopathy, primary pigmented nodular adrenocortical disease, spotty skin pigmentation

A

Carney Complex

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75
Q

Used when only first degree female relatives had breast cancer

A

Gail

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76
Q

Used when first and second degree relatives had breast cancer

A

Claus

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77
Q

Takes into account current age, age at first menses, and age a first live birth

A

Gail

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78
Q

Considers previous biopsy and if atypical cells were seen

A

Gail

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79
Q

For breast cancer risk AND mutation risk

A

BRCAPro, Tyrer-Cuzick, BOADICEA

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80
Q

Considers risk for “lower penetrance” gene in addition to BRCA

A

Tyrer-Cuzick

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81
Q

FAP plus osteomas and soft tissue tumors (desmoids, epidermoids, fibromas)

A

Gardner syndrome

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82
Q

FAP plus CNS tumors, specifically medulloblastoma

A

Turcot syndrome

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83
Q

Cancers that Amsterdam II takes into consideration

A

CRC, uterine, small bowel, ureter, renal pelvis

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84
Q

Absence of MLH1 and PMS2 could be

A

MLH1 germline mutation

MLH1 promoter hypermethylation (rule out through BRAF testing)

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85
Q

Absence of just PMS2 could be

A

MLH1 or PMS2 germline mutations

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86
Q

Most Lynch CRC tumors are _ on microsatellite testing

A

MSI-high (high instability)

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87
Q

Absence of MSH2 and MSH6 could be

A

MSH2 germline mutation

EPCAM germline mutation (EPCAM is just upstream of MSH2, 3’ EPCAM deletions can lead to absence of MSH2 expression)

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88
Q

Absence of just MSH6 could be

A

MSH6 germline mutation

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89
Q

Adrenocortical carcinoma

A

Li-Fraumeni

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90
Q

Choroid plexus carcinoma

A

Li-Fraumeni

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91
Q

Cancer syndrome may manifest as primary hyperparathyroidism

A

MEN1

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92
Q

MEN2A and 2B associated with _ mutations

A

gain of function

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93
Q

RET associated Hirschsprung’s disease

A

Associated with LOF mutations
Megacolon
Constipation

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94
Q

Bilateral vestibular schwannomas

A

NF2

Conductive HL by age 30
Tinnitus
Balance dysfunction “death by drowning” is key pedigree note
Decreased visual acuity

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95
Q

Cardiac rhabdomyoma

A

Tuberous Sclerosis Complex (TSC)

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96
Q

Angiofibromas, cortical dysplasias, hypomelanotic macules, lymphangioleiomyomatosis, multiple retinal nodular hamartomas, renal angiomyolipoma, subependymal giant cell astrocytoma, subependymal nodules, ungual fibromas, neuroendocrine tumors

A

Tuberous Sclerosis Complex

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97
Q

Shagreen Patches

A

Tuberous Sclerosis Complex

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98
Q

Neuroendocrine tumors seen in TSC

A

Pituitary adenoma, parathyroid adenoma, pancreatic adenoma, gastrinoma, pheochromocytoma, carcinoids

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99
Q

Penile freckline

A

PTEN

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100
Q

Subependymal nodules

A

Tuberous Sclerosis Complex

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101
Q

Subependymal giant cell astrocytoma (brain tumor)

A

Tuberous Sclerosis Complex

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102
Q

“confetti” hypopigmented skin lesinos, dental pits, intraoral fibromas, multiple renal cysts, retinal achromic patch

A

Tuberous Sclerosis Complex

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103
Q

Cancer syndrome with seizures, ASD, ADHD, DD/ID

A

Tuberous Sclerosis Complex

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104
Q

Endolymphatic sac tumors

A

VHL

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105
Q

Clear cell renal carcinoma, spinal or cerebellar hemangioblastoma, pancreatic neuroendocrine tumors, pheochromocytoma, paraganglioma, retinal angioma, multiple renal and pancreatic cysts

A

VHL

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106
Q

Spinal or cerebellar hemangioblastoma

A

VHL

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107
Q

Coved type ST segment

A

Brugada

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108
Q

SCN5A is the main gene in

A

Brugada

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109
Q

Sudden death, negative T wave, Coved type ST segment, V fib, self-terminating polymorphic ventricular tachycardia, episodes of syncope, nocturnal agonal respiration (gasping)

A

Brugada

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110
Q

Type of arrhythmia associated wtih normal baseline/resting ECG and abnormal ECG only after andrenergic event. Suden death or syncope with exercise/excitement, major cause of sudden death in childhoos

A

Catecholaminergic Polymorphic entricular Tachycardia (CPVT)

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111
Q

Migraines with aura, strokes, mood disturbances, progression to subcortical dementia, pseudobulbar palsy, leukoencephalopathy

A

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)

Gene: NOTCH3

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112
Q

Xanthomas, elevated cholesterol, premature atherosclerosis, coronary artery disease, increased risk for MI

A

Familial Hypercholesterolemia

Genes: LDLR, APOB, PCSK9, LDLRAP1

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113
Q

Telangiectasias, nose bleeds, AVMs (occur in large organs)

A

HHT

Genes: ACVRL (ALK1), ENG, SMAD4, GDF2

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114
Q

Torsades de pointes

A

Long QT

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115
Q

LQTS with congenital deafness

A

Jervell and Lange-Nielsen Syndrome (Autosomal Recessive)

Genes: KCNE1 and KCNQ1

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116
Q

LQTS with autism

A

Timothy syndrome

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117
Q

Timothy syndrome

A
  • Autosomal dominant
  • LQTS, type 8
  • syndactyly
  • autism
  • structural cardiac malformations
  • ID
  • dental anomalies
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118
Q

Thickening, usually of the left ventricle which leads to reduced cardiac output

A

Hypertrophic Cardiomyopathy (HCM)

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119
Q

Caused by mutations in sarcomere genes

A

HCM

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120
Q

HCM is seen in

A

Noonan syndrome and Fabry

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121
Q

Stretching of muscle fibers, often in the left ventricle, leads to dilation of the chamber and reduced cardiac output

A

Dilated Cardiomyopathy (DCM)

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122
Q

Caused by mutations in cytoskeletal genes

A

DCM

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123
Q

DCM is seen in

A

DMD, mito disease, Bardet-Biedl Syndrome, Alstrom sydnrome

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124
Q

Caused by fibrofatty replacement of the right ventricular heart tissue (myocardium)

A

Arrhythmogenic right-ventricular Dysplasia/Cardiomyopathy (ARVD/ARVC)

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125
Q

Associated arrhythmia generated from the right ventricle

A

ARVD/ARVC

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126
Q

Naxos/Carvajal disease

A

Recessive ARVD/ARVC with palmoplantar keratoderma and “wooly hair”

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127
Q

Caused by mutations in desmosomal genes

A

ARVD/ARVC

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128
Q

During embryogenesis, the heart is made up of spongy layers of blood vessels, which should normally compact. Failure to compact leads to

A

Left-Ventricular Non-compaction (LVNC)

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129
Q

Excessive, prominent, persistent trabeculations are major feature (congenital but typically manifests later in life)

A

LVNC

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130
Q

Heart walls become rigid, reducing ability to pump blood/cardiac output

A

LVNC

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131
Q

Most cardiac arrhythmias are

A

Channelopathies

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132
Q

NBS for CF uses

A

Immunoreactive trypsinogen (IRT) - will be elevated in CF, then check common mutations

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133
Q

CF and Brugada are

A

Channelopathies

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134
Q

Chromosomal Breakage Disorders

A

Ataxia-Telangiectasia

Bloom

Cockayne

Fanconi Anemia

Nijmegen Breakage syndrome

Werner Syndrome

Xeroderma Pigmentosum

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135
Q

Dysarthria (slurred speech)

A

Ataxia-Telangiectasia

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136
Q

Ataxia, oculomotor apraxia, involuntary movements, recurrent infections, delayed puberty, premature menopause, growth delay, drooling, dysarthria, premature aging, type 2 diabetes at young age, increased risk for lymphomas and leukemias

A

Ataxia-Telangiectasia

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137
Q

Extreme growth deficiency and characteristic high-pitched voice

A

Bloom syndrome

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138
Q

IUGR, short stature, feeding dificulties, immune deficiency, premature menopause, azoospermia/oligospermia, learning problems (most intellectually normal), butterfly shaped skin lesion/rashes after sun exposure

A

Bloom syndrome

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139
Q

Biggest cancer risk for bloom syndrome

A

Colon followed by breast, liver, respiratory tract, lymphatic, sarcoma, germ cell, CNS, retinoblastoma

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140
Q

Postnatal growth failure, progressive microcephaly, leukodystrophy, neurologic dysfunction, DD, behavior problems, Intellectual deterioration, photosensitivity, Demyelinating peripheral neuropathy, pigmentary retinopathy, cataracts, SNHL, dental anomalies, premature aging

A

Cockayne Syndrome

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141
Q

Cachectic dwarfism

A

Cockayne syndrome

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142
Q

Worst type of Cockayne Syndrome

A

Type 2

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143
Q

Chromosome breakage syndrome not predisposed to cancer or infection

A

Cockayne Syndrome

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144
Q

Nucleotide excision repair

A

Cockayne Syndrome and Xeroderma Pigmentosum

145
Q

Pancytopenia/bone marrow failure

A

Fanconi Anemia

146
Q

FANCB inheritance pattern

A

X-linked recessive

147
Q

Short stature, skeletal anomalies (abnormal limbs and digits, dysplastic, hypoplastic, or absent), microcephaly, skin lesions, DD/ID, conductive HL due to middle ear skeletal anomalies, CHD, GI issues, kidney problems, pituitary/CNS hypoplasia

A

Fanconi Anemia

148
Q

Cross-link repair, homologous recombination repair

A

Fanconi Anemia

149
Q

Double stranded break repair

A

Ataxia-Telangiectasia and Werner Syndrome

150
Q

Increased sister chromatid exchanges/double-stranded break repair

A

Bloom syndrome

151
Q

Homologous recombination repair

A

Nijmegen Breakage Syndrome

152
Q

Microcephaly, growth delay, recurrent sinopulmonary infections, progressive decline in intellectual ability leading to borderline/moderate ID, dysmorphic features, T and B-cell lymphomas are common

A

Nijmegen Breakage Syndrome

153
Q

Premature aging and early onset of disease normally associated with aging (osteoporosis, diabetes, atherosclerosis, calcinosis)

A

Werner Syndrome

154
Q

Short stature, premature again, skin atrophy with sclerodermic lesions (can lead to gangrene/amputation), lipodystrophy, change in voice (weak and high-pitched), gonadal atrophy with associated infertility, telangiectasias, increased risk for cancer (melanoma, sarcoma, thyroid, liver, myelodysplastic syndrome, malignant fibrous histiocytoma)

A

Werner Syndrome

155
Q

Extreme sun sensitivity, multiple freckles at an early age, solar keratoses, extreme ocular sunsensitivity, skin blistering with sun exposure, spider veins, dry skin, corneal ulcerations, SNHL, neuropathy, BCC and SCC risks, cutaneous melanoma, gliomas, increased risk for any internal neoplasm

A

Werner Syndrome

156
Q

Ciliopathies

A

Alstrom syndrome, Bardet-Biedl Syndrome, Joubert syndrome, Meckel-Gruber Syndrome, Orofaciodigital Syndrome 1, Polycystic Kidney Disease, Primary Ciliary Dyskinesia

157
Q

Visual pathology (nystagmus, blindness, other), obesity, DCM with CHF, hearing loss, hepatic and renal dysfunction, advanced bone age, ABSENCE OF POLYDACTYLY

A

Alstrom syndrome (ALMS1) - autosomal recessive

158
Q

Alstrom syndrome is similar to

A

Bardet-Biedl Syndrome (but ABSENCE OF POLYDACTYLY)

159
Q

Retinitis pigmentosa, postaxial polydactyly, syndactyly, renal anomalies, ID, DD, GU abnormalities (TWO UTERUS), speech disorders, DCM, left ventricular hypertrophy, GI problems and feeding difficulties, truncal obesity

A

Bardet-Biedl Syndrome (Autosomal recessive, digenic recessive)

Genes: BBS1-BBS12, CCDC28B, CEP290, TMEM67, MKS1, MKKS

160
Q

Hypotonia in infancy with later development of ataxia, moderate ID, DD, episodic tachypnea or apnea, atypical eye movements (nystagmus, oculomotor apraxia, seizures, speech apraxia, autism, behavior problems, MRI findings

Can also see: retinal dystrophy, cystic kidney disease, coloboma, congenital hepatic fibrosis, polydactyly, CL/P and orofacial anomalies

A

Joubert syndrome (AR and X-linked)

161
Q

Embryonic lethal, renal cystic dysplasia

A

Meckel-Gruber Syndrome (AR)

162
Q

Renal cystic dysplasia, CNS malformations, polydactyly, hepatic malformations, oligohydramnios, pulmonary hypoplasia

A

Meckel-Gruber Syndrome (AR)

163
Q

Typically embryonic male lethal, oral anomalies (hamartomas/lipomas of tongue, CP, hypodontia, dental anomalies), facial anomalies, digital anomalies, brain anomalies, polycystic kidney disease, mild ID

A

Orofaciodigital Syndrome 1 (X-linked dominant)

164
Q

OFD1

A

Orofaciodigital Syndrome 1

165
Q

Renal cysts develop in utero but grow over time; bilateral renal cysts, cysts also on (liver, pancreas, seminal vesicles, arachnoid membrain), intracranial aneurysm, aortic root dilation/dissection, MVP

A

Polycystic Kidney Disease - can be AD or AR, AR more severe (30% death rate in newborns)

166
Q

heterotaxy (situs inversus), impaired ciliary motility, frequent upper and lower respiratory infections due to poor clearance of mucus from thelungs

A

Primary Ciliary Dyskinesia (AR)

167
Q

F8 gene

A

Hemophilia A (X-linked recessive)

168
Q

Excessive bleeding, renewed bleeding, deep-muscle and intracranial or GI tract bleeds without obvious trauma, poor wound healing, menorrhagia, excessive bruising

A

Hemophilia A (X-linked recessive)

F8 gene!

169
Q

F9 gene

A

Hemophilia B (X-linked recessive)

170
Q

Acute treatment with DDAVP

A

Hemophilias

171
Q

Increased risk for venous thromboembolism

A

Factor V (Autosomal dominant and recessive)

Gene: F5

172
Q

Long-term oral anticoagulants is necessary, particularly in homozygotes

A

Factor V (Autosomal dominant and recessive)

Gene: F5

173
Q

Factor V “Leiden” refers to

A

The common allele, c.1691G>A in F5

174
Q

Mild to moderate mucocutaneous bleeding. Easy bruising, nosebleeds, heavy periods

A

von Willebrand Disease (most AD, occasional AR)

VWF gene

175
Q

von Willebrand Disease type 2B and 2N may have

A

thrombocytopenia

176
Q

von Willebrand Disease type 2N has more

A

severe bleeding and mimics hemophilia

177
Q

Congenital Contractural Arachnodactyly

A

Beals Syndrome

AD - FBN2 gene

178
Q

Marfanoid habitus, flexion contractures of elbows, hips, knees, and/or fingers, kyphoscoliosis, muscular hypoplasia, crumpled ear outer helices

A

Beals Syndrome (Congenital Contractural Arachnodactyly)

179
Q

Rare severe/lethal form of Beals Syndrome (Congenital Contractural Arachnodactyly)

A

Marfanoid habitus, flexion contractures of elbows, hips, knees, and/or fingers, kyphoscoliosis, muscular hypoplasia, crumpled ear outer helices

PLUS

CV anomales (ASD, VSD, interrupted aortic arch, arotic root dilation)
Duodenal and/or esophageal atresia, intestinal malrotation
180
Q

Loose, inelastic skin that hangs/looks wrinkled, joint hypermobility, hernia, blue sclera, cardiopulmonary complications

A

Cutis Laxa (AD, AR, XL)

ELN gene usually, are others

181
Q

Most severe type of EDS

A

Vascular type - Type IV

182
Q

Vascular/arterial dissection or rupture, Gi rupture, bowel rupture, organ rupture, club foot, spontaneous pneumothorax, hip dysplasia, inguinal hernia

A

Vascular type EDS - Type IV

183
Q

Hyperelastic skin, atrophic scarring, joint hypermobility, smooth and velvety skin, pseudotumors over elbows and knees, dislocations and sprains and flat feet, joint pain, easy bruising, increased risk for postoperative hernia

A

Classic type of EDS - EDS 1 and 2

184
Q

Vessel tortuosity

A

Loeys-Dietz (AD)

Genes: TGFBR1, TGFBR2, SMAD3, TGFB2

185
Q

Aortic dilation/dissection, bicuspid aortic valve, arterial aneurysms, pectus, scoliosis, joint laxity/contracture, arachnodactyly, C-spine instability, bifid uvula/CP, translucent skin, dystrophic scars

A

Loeys-Dietz (AD)

186
Q

Connective tissue disorder with cleft palate/bifid uvula

A

Loeys-Dietz

187
Q

Types of OI with blue sclera

A

Type I, III

188
Q

Woods lamp for skin diagnoses

A

Tuberous Sclerosis

189
Q

“mesh-like” bone appearance

A

OI Type V

190
Q

“Fish scale” bone appearance

A

OI type VI

191
Q

Type II Loeys-Dietz has no

A

craniofacial findings

192
Q

Very similar to Loeys-Dietz including dysmorphic features/craniosynostosis with multiple abdominal hernias, ID, brain anomalies

A

Sphrintzen-Goldberg Syndrome (AD)

Gene: SKI

193
Q

Type 1 Stickler syndrome is “_”

A

“Membranous” - most common type

Persistent vestigial vitreous gel in the retrolental space of the eye

194
Q

Type 2 Stickler syndrome is “_”

A

“Beaded”

Sparse and irregularly thickened bundles throughout the vitreous cavity of the eye

195
Q

Midface hypoplasia, telecanthus and epicanthal folds, Pierre-Robin sequence, progressive SNHL, high myopia, short stature, early-onset arthritis, kyphoscoliosis, platyspondylia, MVP

A

Stickler Syndrome (AD)

Genes: COL2A1, COL11A1, COL11A2, COL9A1

196
Q

Severe microcytic hypochromic anemia, splenomegaly, severe bone deformities, death before age 20 if untreated

A

Beta Thal (AR)

HBB gene

197
Q

Treatment:
Periodic blood infusions
Splenectomy
Chelation of transfusion-induced iron overload

A

Beta Thal Major

198
Q

Vaso-occlusive events

A

Sickle cell

199
Q

Dactylitis

A

Sickle cell

200
Q

Pulmonary hypertension, acute chest syndrome (chest pain, fever, pulmonary infiltrate, respiratory problems, hypoxia), splenic dysfunction, chronic hemolysis, stroke

A

Sickle Cell anemia (HbSS genotype)

201
Q

Normal blood genotype

A

Hb AA

202
Q

Sickle cell trait genotype

A

Hb AS

203
Q

Sickle cell trait may experience symptoms with

A

Extreme exertion, high altitude, or dehydration

May have higher risk for venous thromboembolism

Protective advantage against malaria

More often due to point mutations

204
Q

Poor growth, exercise intolerance, muscle weakness, vision/hearing loss, LD, seizures and strokes

A

Common features of mito disorders

205
Q

Cardiomyopathy (left ventricular non-compaction), neutropenia, underdeveloped muscles and muscle weakness, growth delay, exercise intolerance, normal intelligence or mild-moderate LD, growth problems resolve after puberty

A

Barth syndrome (X-linked recessive)

TAZ gene

206
Q

Major cause of death in Barth syndrome

A

cardiomyopathy and neutropenia

207
Q

Rapid developmental regression, onset in first months/years of life, FTT, onset after an energetically taxing event, diarrhea, vomiting, dysphagia, seizures, lactic acidosis, muscular deterioration, hypotonia, dystonia, ataxia, ophthalmoparesis, nystagmus, cardiac and respiratory failure, VSDs, peripheral neuropathy, lifespan in 6-7 years

A

Leigh syndrome

X-linked, AR, or can be mito

MANY genes

208
Q

Major cause of death in Leigh syndrome

A

Respiratory failure

209
Q

Psychiatric illness (depression, psychosis, dementia), seizure disorders/epilepsy, extrapyramidal movement disorders (parkinsonianism, chorea), cerebrovascular involvement, SNHL, retinopathy, myopathy, exercise intolerance, peripheral neuropathy, endocrine/gonadal failure, GI problems, liver failure, cardiomyopathy, cataracts, early death may occur

A

POLG-related disorders (AR and AD)

210
Q

Metabolic form:

lactic acidosis/elevated blood lactate

Hyperventilation secondary to metabolic acidosis

A

Pyruvate Dehydrogenase Deficiency (X-linked)

211
Q

Neurologic form:

Onset in first year of life
Hypotonia
Poor feeding
Lethargy
Brain MRI abnormalities
DD/ID
Seizures
Microcephaly
Blindness
Spasticity
Progressive disorder
A

Pyruvate Dehydrogenase Deficiency (X-linked)

212
Q

Treatment of sodium bicarbonate for acute metabolic episodes and ketogenic diet

A

Pyruvate Dehydrogenase Deficiency (X-linked)

213
Q

NORMAL cognition, DD, muscle weakness, congenital cataracts, HCM, lactic acidosis, high risk of death in infancy due to cardiac failure

A

Senger’s syndrome (AR)

214
Q

Myopathy, encephalopathy, stroke, lactic acidosis

A

MELAS (mito) - onset between 5-15 years

215
Q

Myoclonic epilepsy, hearing loss, symmetrical lipomatosis around neck, ragged red fibers (clumps of disease mitochondria that accumulate in the muscle fibers)

A

MERRF (mito)

216
Q

Neuropathy, ataxia, retinitis pigmentosa

A

NARP (mito); moderate heteroplasmy at T8993G

217
Q

High heteroplasmy at T8993G

A

causes Leigh syndrome (moderate causes NARP)

218
Q

Fatal in infancy, FTT, sideroblastic anemia, exocrine pancreas dysfunction

A

Pearson syndrome (mito)

219
Q

Chronic PEO, pigmentary retinopathy, cardiac conduction abnormalities, onset before 20 years, cerebellar ataxia may be seen

A

Kearns-Sayre Syndrome (mito)

220
Q

Due to nondisjunction in paternal meiosis

A

Turner syndrome

221
Q

Due to nondisjunction in maternal OR paternal meiosis I

A

Klinefelter Syndrome

222
Q

Usually maternal meiosis I (can be paternal meiosis I)

A

Trisomy 21

223
Q

Due to nondisjunction in maternal meiosis II

A

Trisomy 18

224
Q

Due to nondisjunction in maternal meiosis I

A

T13

225
Q 
Caused by motor neuron death
Muscle weakness/atrophy
Stiffness/cramping of muscles
Difficulty swallowing
Foot drop
Progressive bulbar palsy
Difficulty talking
Progressive motor deterioration/muscle atrophy
Loss of ability to walk/use hands and arms
Loss of ability to speak/swallow
Ventilator dependence
Average survival from onset of symptoms is 4 years
A

ALS (mostly multifactorial)

226
Q

Duplication of PMP22

A

Charcot Marie tooth (CMT) - 70-80% of cases; AD versions

227
Q

Foot drop - forefoot drops due to muscle weakness; can cause hammer toe

A

CMT (AD, AR, X-linked)

228
Q

Onset of symptoms in early childhood/early adulthood, musclewasting and weakness, neuropathy and loss of feeling in feet, ankles, legs, hands, and arms; painful, spasmodic muscular contractions, damage of sensory nerves while pain nerves are left intact, bruxism, scoliosis, pregnancy and emotional stress can exacerbate disease progression, vocal tremor from muscle wasting, neuropathic pain, eventual wheelchair dependence

A

CMT

229
Q

Positive Gower’s sign

A

BMD and DMD

230
Q

Preservation of neck flexor muscle strength

A

Differentiates BMD from DMD

231
Q

Muscle wasting and weakness, toe walking, joint contractures, arrhythmia, wheelchair dependency/respiratory insufficiency, may have ID

A

Emery-Dreifuss Muscular Dystrophy

ID when X-linked, AD, AR

232
Q

EMD, LMNA, SYNE1, SYNE2, FHL1

A

Emery-Dreifuss MD

233
Q

Normal lifespan, slowly progressive weakness of teh facial muscles, scapular muscles, and humeral muscles, no weakness in bulbar or ocular muscles, winged scapula, onset by 20 years

A

Facio-Scapulo-Humeral MD

234
Q

Deletion of 4q35 which causes deletions of microsatellite repeat D4Z4

A

Facio-Scapulo-Humeral MD

This deletion that causes 10 or FEWER repeats (REPEAT CONTRACTION) which leads to FSHD

235
Q

Normal repeat number for Facio-Scapulo-Humeral MD

A

11 - 100 repeats. Deletions lead to 10 or fewer repeats which lead to FSHD

236
Q

Winged scapula

A

Facio-Scapulo-Humeral MD

237
Q

Symmetric proximal slowly progressive muscle weakness, difficulty walking and using stairs, difficulty bending over, frequent falls, difficulty holding arms above head, pseudohypertrophy, respiratory difficulties, lwer back pain, heart palpitations, facial muscle weakness, distal muscle weakness, should weakness, age of onset (10-30 years), not typically fatal but can weaken heart or lungs and lead to death

A

Limb-Girdle MD (AD or AR)

Lots of genes

238
Q

Muscle weakness, most severe in the face, neck flexors, and proximal limbs; hypotonia, depressed/absent deep tendon reflexes

A

Nemaline Myopathy

239
Q

Forms of Nemaline Myopathy (NM)

A

AD or AR

Severe congenital

Amish NM

Intermediate

Typical (mild) congenital NM

Childhood-onset NM

Adult-onset NM

240
Q

May present with “head drop”

A

Nemaline Myopathy

241
Q

Hypotonia with muscle weakness, absence of motor development, involuntary twitching of the tongue, mild joint contractures, absent tendon reflexes, normal brain function and intellect; lethal by age 2 years

A

SMA type I (AR)

242
Q

Can sit independently once placed in a seated position, onset after 6 months, hypotonia, absent tendon reflexes, normal intellect, may live past age 4 years

A

SMA type II

243
Q

Onset after 10 months, most motor milestones achieved, muscle weakness manifesting as frequent falls and trouble with stairs, proximal limb weakness (legs worse than arms

A

SMA type III

244
Q

SMA IV

A

Adult onset muscle weakness

245
Q

The more copies of SMN2 the _ severe the phenotype

A

less

246
Q

Hypotonia, muscle weakness, DD, absence of motor skill development, severe ID, seizures, brain defects (lissencephaly, hydrocephalus, cerebellar malformations), encephalocele (gap in skull that won’t seal and meninges of brain can protrude through this gap), microphthalmia, retinal abnormalities

A

Walker Warburg Syndrome (AR)

Genes: POMT1, POMT2

247
Q

Muscle disease with encephalocele

A

Walker Warburg Syndrome (AR)

Genes: POMT1, POMT2

248
Q

Port wine stain

A

Klippel-Trenaunay-Weber Syndrome (KTW Syndrome)

SPORADIC INHERITANCE: may be due to somatic changes in early development

Unknown gene

249
Q

Hyperplasia of bone and soft tissues, often in one limb.

Varicose Veins

Lymphatic malformations

Vascular malformations

Port-wine stain

A

Klippel-Trenaunay-Weber Syndrome (KTW Syndrome)

250
Q

Inheritance of KTW syndrome

A

SPORADIC

251
Q

Overgrowth of skin, bones, muscles, fatty tissues, blood vessels, and lymphatic vessel. Overgrowth is non-congenital and disproportionate. Cerebriform connective tissue nevi.

A

Proteus syndrome: Due to SOMATIC MOSAIC AKT1 mutation c.49G>A in all cases (there is a PTEN related Proteus syndrome)

252
Q

Macrosomia, macroglossia, macrocephaly, mild to severe ID, coarse facies, diastasis recti, CHD, diaphragmatic hernia, GU anomalies, GI anomalies, polydactyly, pectus deformities, scoliosis, vertebral fusion, rib anomalies

A

Simpson-Golabi-Behmel syndrome (X-linked recessive)

Genes: GPC3, GXORF5

253
Q

“Bulldog syndrome”

A

Simpson-Golabi-Behmel syndrome (X-linked recessive)

Genes: GPC3, GXORF5

254
Q

Macrocephaly, tall stature, mild to severe ID, flushed cheeks, monotone voice with stuttering, DD, cardiac anomalies, behavior problems, flat feet, joint hyperlaxity, renal anomalies, scoliosis, seizures, advanced bone age, maternal preeclampsia

A

Sotos syndrome (AD; 95% de novo)

NSD1 = gene

255
Q

Flushed cheeks

A

Sotos syndrome (AD; 95% de novo)

NSD1 = gene

256
Q

Overgrowth syndrome causes maternal preeclampsia

A

Sotos syndrome (AD; 95% de novo)

NSD1 = gene

257
Q

Tall stature, rapid and continuous growth, intellect can range from normal to severe ID, macrocephaly, coarse facies, advanced bone age, poor coordination, soft and doughy skin, camptodactyly, umbilical hernia, hoarse and low cry in infancy

A

Weaver syndrome (AD)

EZH2 = gene

258
Q

Sparse, brittle, curly scalp hair. Skin abnormalities (dermatitis, ichthyosis). CHDs (pulomonic stenosis), Craniofacial malformations. Growth delays. Foot abnormalities. Dysmorphic features.

A

Cardiofaciocutaneous syndrome (AD)

Genes: KRAS, BRAF, MEK1, MEK2

259
Q

ID, DD, joint hypermobility, loose folds of extra skin, HCM, pulmonic stenosis, short stature, arrhythmia, rhabdomyosarcoma and neuroblastoma

A

Costello syndrome (AD)

Gene: HRAS (proto-oncogene)

260
Q

RASopathy caused by a proto-oncogene

A

Costello syndrome (AD)

Gene: HRAS (proto-oncogene)

261
Q

How is Legius syndrome different from NF1

A

DOES NOT HAVE LISCH NODULES OR NEUROFIBROMAS

Legius is caused by SPRED1 (AD)

262
Q

How is Legius syndrome similar to NF1

A

CAL macules, optic gliomas, learning problems, etc.

263
Q

Genes to think about in Noonan

A

PTPN11 and KRAS (many others) - AD

264
Q

Short stature, webbed neck, HCM, ASDs/VSDs, pulmonic stenosis, GI issues, cryptorchidism, pectus, joint contractures or hypermobility, scoliosis, hypertelorism, DD, ID/LD, autism, clotting disorders/factor deficiencies, recurrent illness, chronic pain, SNHL

A

Noonan syndrome (AD)

Genes: PTPN11, KRAS, others

265
Q

Noonan plus multiple lentienes (liver spots)

A

LEOPARD syndrome (AD)

Genes: PTPN11, RAF1, BRAF, MAP2K1

266
Q

LEOPARD mnemonic

A 
Lentigines
Electrocardioraphic abnormalities
Ocular hypertelorism
Pulmonic stenosis
Abnormal genitalia
Retarded growth
Deafness
267
Q

Only AR repeat expansion disorder

A

Friedrich’s Ataxia

FXN gene

Trinucleotide repeat: GAA (intronic region)

268
Q

Slowly progressive, disabling ataxia, vision impairment, hearing impairment, slurred speech, scoliosis, pes cavus, diabetes, pyramidal signs, nystagmus, cardiac involvment (cardiomegaly, DCM, heart murmur, conduction defects), average lifespan is 35 years

A

Friedrich’s Ataxia (AR)

FXN gene

Trinucleotide repeat: GAA (intronic region)

269
Q

Muscle weakness, myotonia, cataracts, balding, cardiac arrythmia, average lifespan 45-55 years

A

Myotonic Dystrophy Type I; AD

DMPK gene; CTG repeats

270
Q

Infantile hypotonia, respiratory deficits, ID, muscle weakness, myotonia, cataracts, balding, cardiac arrhythmia, average lifespan 45 years

A

Congenital Myotonic Dystrophy Type I; AD

DMPK gene; CTG repeats

3’UTR region

271
Q

Type of expansion you can see (anticipation) in Myotonic dystrophy type I

A

MATERNAL

272
Q

Muscle weakness and pain, myotonia (begins with neck and finger flexors), cataracts, cardiac arrhythmia, cardiomyopathy, type 2 diabetes, testicular failure/male infertility, sleep disturbances, white matter changes, GI problems, doesn’t exhibit anticipation

A

Myotonic Dystrophy Type II; AD

ZNF9 gene; CCTG repeats

Intronic region

273
Q

Muscular atrophy, difficulty walking/clumsiness, bulbar signs (speech difficulties, swallowing difficulties), endocrine dysfunction (gynecomastia, erectile dysfunction, testicular atrophy) - androgen insensitivity

A

Spinal and Bulbar Muscular Atrophy (Kennedy Disease)

X-linked recessive

Gene: AR

Trinucleotide repeat CAG

274
Q

Slowly progressive ataxia, poor hand-eye coordination, poor speech coordination, irregular eye movements, chorea, pyramidal signs, tremors, peripheral neuropathy, cognitive impairment (rare, only some types), seizures, cerebellar atrophy

A

Spinocerebellar ataxia (AD)

Trinucleotide repeats: CAG or CTG

Over 60 types

275
Q

Inability to utilize androgen for virilization due to defective androgen receptor. 46, XY karyotype with ‘biologically female’ appearance

A

Androgen Insensitivity

Inheritance: X-linked

Gene: AR

276
Q

Complete androgen insensitivity

A

Appear phenotypically female, but are lacking a uterus (Mullerian regression)
- blind ending vagina (no cervix)

277
Q

Partial Andregen Insensitivity

A

May exhibit ambiguous genitalia and/or undervirilization at puberty

278
Q

Why do undescended testes in androgen insensitivity need to be removed?

A

Increased risk for germ-cell tumors

279
Q

Normal sex differentiation, failure to start or complete puberty, small testicles, primary amenorrhea, poorly defined secondary sexual characteristics, infertility, SNHL, imrror movement of hands (synkinesis), renal agenesis/aplasia, CP, craniofacial defects, micropenis, cryptorchidism, dental defects

A

Kallman syndrome (also have anosmia and hypogonadotropic hypogonadism)

X-linked, AD, or AR

Genes: KAL1, KAL2 (FGFR1), KAL3

280
Q

Acute adrenal insufficiency

A

X-linked Adrenal hypoplasia congenita

Gene: NROB1

281
Q

Adrenal failure, acute adrenal insufficiency, hypogonadotropic hypogonadism, DD

A

X-linked Adrenal hypoplasia congenita

282
Q

Treatment: HRT

A

Kallman syndrome

283
Q

Treatment: Glucocorticoid and mineralcorticoid replacement therapy

A

X-linked Adrenal Hypoplasia Congenita

284
Q

Treatment: Glucocorticoid replacement therapy and Florinef

A

21-Hydroxylase Deficiency

285
Q

Trident hands

A

Achondroplasia

286
Q

c.1138G>A in FGFR3

A

Common mutation for Achondroplasia

287
Q

Normal intellect, rhizomelic shortening, trident hands, brachydactyly, frontal bossing, kyphosis or lordosis, bow-leg or knock knee leg deformities, sleep apnea, hydrocephalus, higher risk for obesity, delayed motor milestones

A

Achondroplasia (AD)

Gene: FGFR3

288
Q

Brachycephaly, bulging eyes, arachnodactyly, craniosynostosis, facial hypoplasia, bowed ulna and femur, radial synostosis, humeral synostosis, trapezoidal synostosis, camptodactyly, nasal/anal/vaginal atresia, cryptorchidism, renal malformations, ID, hydrocephalus, upper airway obstruction

A

Antley-Bixler (AR)

Genes: FGFR2, POR

289
Q

Cause of death in Antley-Bixler

A

Respiratory concerns

290
Q

Absence of clavicles

A

Cleidocranial dysplasia (AD)

Gene: RUNX2 (CBFA1)

291
Q

Respiratory insufficiency in newborns, “unusual” clubfoot, scoliosis, hitchhiker thumbs, CP, restricted joint mobility, severe lumbar lordosis, valgus deformities, toe walking, phalangeal synostosis with disability, short stature, normal intellect, spinal cord compression

A

Diastrophic Dysplasia (AR)

Gene: SLC26A2

292
Q

Craniosynostosis, radially deviated short thumb, syndactyly, omphalocele

A

Apert syndrome (AD)

Gene: FGFR2

293
Q

Cloverleaf skull

A

Pfeiffer and thanatophoric dysplasia

294
Q

Craniosynostosis, bulging eyes, high and prominent forehead, hearing loss, dental malocclusion, wide thumbs/large toes which bend outward from other digits, brachydactyly and/or syndactyly

A

Pfeiffer Syndrome (AD)

Gene: FGFR2

295
Q

FGFR2 related disorders

A

Apert, Pfeiffer, Crouzon (all AD)

FGFR2 is APPLE PEPPER CROUTONS

296
Q

“Branchial arch syndrome”

A

Crouzon syndrome (AD)

Gene: FGFR2

297
Q

“beak-like” nose

A

Crouzon syndrome (AD)

Gene: FGFR2

298
Q

Craniosyostosis, bracycephaly, bulging eyes, strabismus, prognathic profile, CHD’s (PDA and aortic coarctation), lifespan is normal if treated for cranial vault symptoms

A

Crouzon syndrome (AD)

Gene: FGFR2

299
Q

Skeletal dysplasia with “normal appearance at birth”

A

Hypochondroplasia (AD)

FGFR3

300
Q

Similar but milder skeletal features as achondroplasia

A

Hypochondroplasia (AD)

FGFR3

301
Q

Coast of Maine CAL (Distribution along the midline)

A

McCune Albright (somatic, post-zygotic mutations)

GENE: GNAS1

302
Q

CAL, fibrous dysplasia, endocrine dysfuncition

A

McCune Albright (somatic, post-zygotic mutations)

GENE: GNAS1

303
Q

Craniosynostosis, hypertelorism, hearing loss, DD, LD in some; abnormally shaped head (even if craniosynostosis is not present as other parts of the skull may be malformed)

A

Muenke syndrome

304
Q

Craniosynostosis, acrocephaly (cone-shaped head), lop-sided face, syndactyly, brachydactyly, valgus deformity, optic atrophy, vision problems, small and low-set ears, CP/high-arched palate, malocclusion, peg teeth, ptosis, short stature, CHDs

A

Saethre-Chotzen Syndrome (AD)

Gene: TWIST

305
Q

Shawl scrotum and short stature (mild to moderate in childhood)

A

Aarskog Syndrome (X-linked recessive)

Gene: FGD1

306
Q

Immune deficiency, recurrent bacterial infections, absence of circulating B cells, low serum immunoglobulins

A

X-linked Agammaglobulinemia

Gene: BTK

307
Q

Gammaglobulin supplementation and prophylactic antibiotics to treat

A

X-linked Agammaglobulinemia

Gene: BTK

308
Q

Complete or partial ACC, seizures (infantile spasms), retinal lacunae, increased tumor risk, lifespan 8-9 years

A

Aicardi syndrome (X-liked dominant)

Unknown gene

309
Q

Bile duct paucity

A

Alagille syndrome (AD)

Genes: JAG1, NOTCH2

310
Q

cholestasis, cardiac defects (stenosis of the pulmonary artery and its branches is the most common) - can manifest from TOF, butterfly vertebrae and other skeletal anomalies, posterior embryotoxon on ophtho exam, inverted triangle face

A

Alagille syndrome (AD)

Genes: JAG1, NOTCH2

311
Q

Hematuria and proteinuria, glomerulonephritis, end-stage kidney disease, progressive HL, leiomyomatosis of the esophagus, eye changes (cataracts, kerataconus, retinal flecks in the macula)

A

Alport syndrome (AD, AR, or XL)

Genes: COL4A3, COL4A4, COL4A5

312
Q

Treatment: ACE inhibitors slow progression of kidney disease, dialysis, kidney transplant

A

Alport syndrome (AD, AR, or XL)

Genes: COL4A3, COL4A4, COL4A5

313
Q

Alzheimers genes

A

APP, PSEN1, PSEN2

314
Q

Coffin-Lowry Syndrome

A

X-linked

Gene: RPS6KA3

short stature, severe ID, cardiac anomalies, auditory problems, dysmorphic features

Female carriers can have intellect ranging from normal to severe ID

315
Q

Mild to severe ID, short thumbs with hypoplastic/absent nails, frequent respiratory infections, low birth weight/feeding difficulties, hypotonia, joint laxity, delayed bone age, microcephaly, coarse facies

A

Coffin-Siris Syndrome (AR, AD)

Genes: ARID1B, SOX11

316
Q

Retinal dystrophy, acquired microcephaly, progressive high myopia, ID, GDD, hypotonia, joint hypermobility, short stature, truncal obesity, slender extremities, sociable disposition, neutropenia

A

Cohen syndrome (AR)

Gene: VPS13B

317
Q

Growth retardation, hirsutism, limb reduction defects, seizures, autistic/self-destructive behaviors, SNHL, GERD, cryptorchidism, CHD, ID/DD

A

Cornelia De Lange Syndrome (AD/XL)

Genes: NIPBL, RAD21, SMC3, HDAC8, SMC1A

318
Q

Normocytic or macrocytic anemia with normal platelets and leukocytes. Increased risk for hematological malignancies and osteogenic sarcoma, Klippel-Feil anomaly, upper limb and hand deformities, GU abnormalities, CHDs, growth delays

A

Diamond-Blackfan Anemia (AD/XL)

Genes: GATA1, RPLs and RPSs, TSR2

319
Q

Inability to produce tears, usually normal intellect, progressive neuronal deterioration, delayed speech, delayed motor milestones, unstead gait, corneal abrasion, decreased pain and temperature perception, poor growth, dysphagia, skin picking/self mutilation, unstable blood pressure, red and puffy hands, crises

A

Familial Dysautonomia (AR)

Gene: IKBKAP

AJ common mutation, c.2204+6T>C

320
Q

Autoinflammatory disease, AA Amyloidosis, recurrent febrile episodes recurrent erythema, elevated serum fibrinogen, kidney failure

A

Familial Mediterranean Fever (AR)

Gene: MEFV

321
Q

Treatment: Preventative oral colchecine

A

Familial Mediterranean Fever (AR)

Gene: MEFV

322
Q

Lissencephaly

A

Miller Dieker

323
Q

Rickets

A

Tyrosinemia

324
Q

Tall stature, feminization at puberty

A

Klinefelter

325
Q

Cataracts

A

Galactosemias

326
Q

LSD/GSD that mimics Limb Girdle

A

Pompe

327
Q

Oculomotor apraxia

A

Gaucher type 3

328
Q

Cherry red spot

A

Tay Sachs and Niemann pick type A

329
Q

Only urea cycle defect where hyperammonemia is rarely present

A

Arginase deficiency

330
Q

Protein aversion, hyperammonemia, respiratory alkalosis

A

Urea cycle disorders

331
Q

Triad of hypotonia, head lag, macrocephaly

A

Canavan disease

332
Q

Chromosomal breakage syndrome without sensitivity to ionizing radiation

A

Cockayne Sydnrome

333
Q

Polydactyly, retinitis pigmentosa, renal problems

A

Bardet-Biedl

334
Q

DCM and neutropenia

A

Barth sndrome

335
Q

Rapid and lethal lactic acidosis and cardiopulmonary failure

A

Leigh syndrome

336
Q

Psych issues, parkinsonism/chorea, standard mito symptoms

A

POLG

337
Q

Standard mito symptoms, ketogenic diet helps treat

A

Pyruvate dehydrogenase

338
Q

Foot drop, muscle wasting

A

CMT

339
Q

Most severe congenital MD; death by age 3

A

Walker-Warburg

340
Q

Sparse hair, pointed chin, overgrowth, flushed cheeks

A

Sotos syndrome

341
Q

Rapid continuous growth, coarse facies, hoarse cry as babies

A

Weaver syndrome

342
Q

ID, HCM/pulmonic stenosis, rhabdomyosarcoma/neuroblastoma

A

Costello syndrome

343
Q

AR dwarfism, unusual clubfoot, hitchhiker thumb

A

Diastrophic Dysplasia

344
Q

Craniosynostosis, hearing loss, FGFR3

A

Muenke

345
Q

Severe immune deficiency

A

XL Agammaglobulinemia

346
Q

Diaphragmatic hernia, death in neonatal

A

Fryns

347
Q

Hemifacial microsomia with visceral organ underdevelopment, unilateral hearing/vision loss

A

Goldenhar

348
Q

Macrocephaly, poly/syndactyly

A

Greig Cephalopolysyndactyly

349
Q

Ectodermal dysplasia, fusion of eyelids

A

Hay-Wells (AD)

350
Q

Limb reduction defects, thalidomide phenocopy

A

Holt-Oram (AD)

Gene: TBX5

351
Q

Childhood diabetes, vision/hearing loss

A

Wolfram (AR)

352
Q

Mutations in different genes can cause the same disorder/phenotype

A

Locus heterogeneity

Ex. Autism, retinitis pigmentosa

353
Q

Different mutations in the same gene can cause the same disorder

A

Allergic heterogeneity

354
Q

Different mutations in the same gene can cause different phenotypes

A

Phenotypic heterogeneity

355
Q

Stellar irises

A

Williams syndrome (deletion of 7q)

356
Q

Supravalvular aortic stenosis

A

Williams syndrome (deletion of 7q)

357
Q

Aniridia

A

Absence of the colored part of the eye (seen in WAGR - deletion of 11p)

358
Q

WAGR

A

Wilms tumor
Aniridia
GU anomalies
Retardation (ID)

359
Q

Anterior lenticonus

A

Virtually pathognomonic for Alport Syndrome

BOARDS (6 decks)

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