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All CTMD Diseases Flashcards

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1
Q

Defects in cilia

A

primary ciliary dyskinesia

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2
Q

Defects in primary cilia

A

ciliopathies

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3
Q

Three inherited collagen disorders

A

Ehlers-Danlos, OI, osteoarthritis

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4
Q

Acquired collagen disorder and what step

A

Scurvy. Can’t hydroxylate proline, PROLYL HYDROXYLASE –> requires vit C as cofactor

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5
Q

Marfan’s Syndrome

A

defect in elastic tissue, fibrillin gene

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6
Q

Sacrococcygeal Teratoma

A

occurs when remnants of primitive streak persist as pluripotent cells proliferating in buttocks region

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7
Q

Hirschsprung Disease

A

failure of neural crest cells to migrate into wall of developing large intestine, reduced diameter of distal colon caused by tonic contraction of non-innvervated muscles “backs up” system and causes dilation of more proximal segments

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8
Q

polyhydramnios and oligohydramnios

A

excess and decreased amounts of amniotic fluid, respectively

Both conditions may indicate presence of birth defects such as esophageal atresia, or defective kidneys

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9
Q

achondroplasia (what and cause)

A

most common form of dwarfism, affects long bones

Cause: mutation in FGF receptors

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10
Q

craniosynostosis (what and cause)

A

premature closure of one or more cranial sutures, malformed cranium

Cause: mutation in FGF receptors

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11
Q

polysyndactyly (what and cause)

A

extra fused digits

Cause: Mutations in HOXD13 gene

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12
Q

holoprosencephaly

A

broad spectrum of defects based upon defective formation of forebrain

Cause: mutations in SHH gene (SHH is secreted by prechordal plate and induces forebrain formation)

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13
Q

hypotelorism

A

underexpression of SHH, eyes close together, proboscis

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14
Q

hypertelorism

A

overexpression of SHH, eyes far apart

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15
Q

Renal-Coloboma Syndrome

A

mutation in PAX2 gene

clefting defect of eye, underdevelopment of kidney

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16
Q

brachycephaly

A

flat head syndrome

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17
Q

palpebral fissure

A

line from inner to outer corners of eyes

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18
Q

philtrum

A

groove in area between upper lip and nose

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19
Q

micrognathia

A

undersized jaw

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20
Q

frontal bossing

A

development of unusually pronounced forehead as result of enlarged frontal bone

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21
Q

omphalocoele

A

abdominal wall defect in which liver and intestines remain outside in a sac because of a defect in development of muscles of abdominal wall, oftentimes correlated with genetic defects (60% of time)

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22
Q

gastroschisis

A

defect in anterior abdominal wall through which abdominal contents freely protrude, not usually correlated with genetic anomaly

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23
Q

Robin malformation sequence

A

micrognathia –> displacement of tongue (glossoptosis) –> cleft soft palate

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24
Q

VACTERL association

A

VACTERL association: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities

Not related in any obvious way

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25
Common findings in triploidy
- microsomia | - fused 3rd and 4th fingers
26
Down Syndrome chromosomal abnormalities
94% trisomy 21 (usually originate from mother, risk of non-disjunction with increasing maternal age) 3% mosaic 3% trisomy 21 due to unbalanced translocation
27
Down Syndrome Clinical Findings
1. short stature 2. developmental delay/mental retardation 3. upslanting palpebral fissures 4. increased skin on back of neck 5. hearing loss
28
Causes of death in Down Syndrome
Infancy: heart disease (do EKGs early to identify any heart defects), leukemia, respiratory issues Late adult: worsening immune system, premature aging, early-onset dementia
29
Trisomy 18/Edward's Syndrome
Common with 13: heart disease, rocker bottom feet, poor survival, mental retardation DISTINCT: omphalocoele, micrognathia, 5 over 4 and 2 over 3 Survives longer than 13 usually (~1 year)
30
Trisomy 13
Common with 18: heart disease, rocker bottom feet, poor survival, mental retardation DISTINCT: polydactyly, cleft lip/palate, holoprosencephaly Lives only for about a month
31
Turner Syndrome
45, X - short stature, streak gonads, amenorrhea, webbed neck, prominent ears, shield chest, renal malformations common, 20% have congenital heart disease (coarction of aorta)
32
Klinefelter
47 XXY | - appear normal until puberty, hypogonadism, infertility, tall, male breast enlargement, behavioral problems
33
XYY
- pretty normal, sometimes taller
34
XXX
- no obvious increase in malformations - sometimes tall, some fertility problems - sometimes learning disabilities
35
Cri du Chat
- 5p- - shrill cry - microcephaly, round face, ocular hypertelorism, epicanthal folds, downslanting palpebral fissures, single transverse palmar crease, hyptotonia - Later: mental retardation, good survival * Do parental studies! --> determine carrier status to see if there was unfavorable segregation from parent with unbalanced reciprocal translocation
36
Wolf-Hirshhorn
- 4p- - microcephaly, frontal bossing, cleft palate/lip, micrognathia, seizures - survival is poor * Parental studies
37
Prader-Willi
- 60-70% with deletion on 15q paternal - In non-deletion cases, maternal UPD hypotonia, mental deficiency, progressive obesity with compulsive eating, hypopigmentation
38
Angelman
- deletion on maternal 15 or paternal UPD - severe mental retardation, microcephaly, unprovoked laughther, hypopigmentation - With age: wide mouth, thin upper lip, widely spaced teeth
39
Williams Syndrome
- 7q- (includes gene for elastin) - elfin face, aortic stenosis, wide mouth, loquacious personality, music ability, stellate pattern of iris, developmental delay * Can only use FISH (parent chroms normal)
40
Deletions 22q11.2 Syndromes
1. DiGeorge: anormalities of thymus, hypocalcemia, heart defects 2. Velocardiofacial Syndrome: cleft palate, tubular nose, heartdisease CATCH-22: cardiac, abnormal facial, thymic aplasia, cleft palate, hypocalcemia, chrom 22
41
Miller-Dieker Syndrome
17p13.3 deletion Lissencephaly = smooth brain - developmental delay, hypertelorism, microcephaly
42
Thalassemias
mutation in synthesis of specific Hb chains leads to anemia * see Target RBCs
43
Sickle Cell anemia
Single mutation Glu6-->Val - allows for hydrophobic interactions between B-subunits and sickling - lifespan 120 days to 17 days - polymerize at low O2 or during illnesses - "crisis", painful :( - HbS --> curve shift right
44
Microcytic Hypochromic Anemia
low MCV, MCH, MCHC | Causes: iron deficiency, thalassemia
45
Macrocytic anemia
high MCV, vit B12 deficiency
46
Normocytic normochromic anemia
normal MCV, MCH, MCHC Causes: anemia of chronic disease, acute blood loss, hemolytic anemia
47
What virus causes leukemia/lymphomas
HTLV-1 (human T cell lymphotrophic virus)
48
What virus causes cervical and anogenital carcinomas
HPV
49
What virus causes Burkitt's lymphoma
Epstein-Barr Virus (EBV)
50
What virus causes hepatocellular carcinoma
HCV, HBV
51
erb B (EGFR)
80% squamous cell carcinoma of lung 80-100% of epithelial tumors of head and neck 50% glioblastomas
52
Ras
90% pancreas | 50% colon, thyroid
53
Myc
c-Myc: Burkitt's lymphoma L-myc: small lung cell carcinoma n-myc: neuroblastoma
54
CML
(9;22) abl kinase, bcr regulator
55
Burkitt's lymphoma
(8; 14) c-myc, Ig regulator
56
promyelocytic leukemia
(15;17)--> treat with ATRA
57
myelomonocytic leukemia
inv(16)
58
myeloblastic leukemia
(8;21)
59
Ewing sarcoma
(11;22)
60
Meningioma
Monosomy 22
61
Retinoblastoma
del(13)(q14)
62
alveolar rhabdomyosarcoma
t(2;13)
63
synovial sarcoma
t(X;18)
64
FA
chromosome instability syndrome - inability to repair interstrand DNA crosslinks/translesional synthesis * lymphomas and leukemias * hyperpigmentation, triangular face, bone marrow failure
65
Bloom Syndrome
RECQ helicase mutation, hyperrecombination - Blm helicase has role in DNA ds break repair *solid tumors, lymphomas malar "butterfly" rash
66
AT
- mutation in ser/thr kinase involved in signal transduction of DNA damage signals to machinery, mutation in ATM gene * lymphomas - ability to repair DNA damage from ionizing radiation is impaired
67
XP
NER pathway | malignancies of skin

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