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Oral Med > syndromes of head and neck > Flashcards

syndromes of head and neck Flashcards

1
Q

what is a syndrome?

A

combination of signs and symptoms which are indicative of a particular disease or disorder?

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2
Q

WHat is a sequence?

A

series of ordered consequeneces which occur dut to a single cause

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3
Q

What is a malformation?

A

abnormal structure due to irregular development

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4
Q

what is deformation?

A

caused by mechanical stress on a normal structure

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5
Q

what are congenital diseases?

A

a disease that begins in the first month of life or birth

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6
Q

What are aqcuired diseases?

A

condition that develops after birth

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7
Q

What are the causes of head and neck syndromes?

A

genetics and environmental

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8
Q

which causes, genetic or environmental, are more common causes of H and N syndromes?

A

genetic

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9
Q

What is an example of a teratogenic syndrome?

A

Fetal alcohol syndrome

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10
Q

What are the features of fetal alcohol syndrome?

A 
Flattened nasal bridge
close set eyes
Flat philtrum
Epicanthal folds
Underdeveloped jaw
Flat midface
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11
Q

What is an example of a chromosomsal syndrome?

A

Trisomy 13 Patau syndrome
Trisomy 18 edwards syndrome
Trisomy 21 Downs syndrome

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12
Q

WHat is Downs syndrome? and what is the incidence of Downs? What are some non dental, relevant features?

A 
A metotic non dysjunction 
Trisomy 21
1/700
Epicanthic folds
Bradyceohaly 75%
Brushfield spots 
Palmar crease
Stunted growth
Congenital heart defects
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13
Q

what are the dental implications of downs syndrome?

A 
Hypoplsia of mid face
lage tongue relative to mouth
periodontal disease
delayederuption of teeth
hypodontia and microdontia
Cleft lip and palate 
Difficulty to co operator
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14
Q

What is patau syndrome? and what is the incidence?

A

1/10000

3 copies of chromosome 13

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15
Q

What are the syndromes affecting the bone?

A 
Osteogenesis Imperfecta
AchondroplasiaOsteopetrosis
Cleidocranial Dysplasia
MArfan SYndrome
McCune Albright syndrome
Craniosynotosis (aperts and crouzons)
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16
Q

What is affected in osteogenesis imperfecta and what is the implication of this?

A

Abnromal type 1 collagen synthesis

reduced bone density and tendenacy to fractrure

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17
Q

What features are there of Osteogensesis imperfecta?

A 
Blue sclera
deafness
thin translucent skin
joint hypermobilty and lax ligaments
heart valve defects
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18
Q

How many types of OI exist?

A

4 types

AD/AR/sporadic

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19
Q

What is achondroplasia and what is the incidence?

A

AD or sporadic (increased paternal age) failure of enchondral ossification at growth plates
1/25000

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20
Q

What are the features of achdondroplasia?

A

normal growth in lumbar spine (lumbar lordoisis)
Large head
retruded mid part of face

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21
Q

What is osteopetrosis?

A

Defect in osteoclast activiy due to defective carbonic anhydrase enzyme

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22
Q

WHat are the features of osteopetrosis?

A 
excesive formation of dense bone
susceptible to fracture
delayed dental eruptopn
difficult extrcations
blood problems
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23
Q

What is cleidocranial dysplasia?

A

AD defect affecting skul, jaws and clavicles

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24
Q

What are the clavicular features of Cleidocranial dysplasia?

A

No/Some clavicles

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25
Q

WHat are the maxillary features of cleidocranial dysplasia?

A

Poorly developed maxilla (high palate, narrow)

Retained primary teeth and elayed eruption of secondary teeth and increased risk of supernumaries

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26
Q

What are the skull features of cleidocranialdysplasia?

A

Sutures in skull remain open: frontoparietal bossing

Depressed nasal bridge and hyposplastic mid third

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27
Q

What is Marfans syndrome?

A

AD

Connective tissue disease

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28
Q

Which chromosome is affected in MArfans?

A

15q

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29
Q

What are the major criteria for marfans?

A 
need at lesat 2 of: LADS
Lens dislocation
aortic dilatation or dissesction
Dural ectasia
Skeletal abnorm (wide spanning arms, pes planus, pectus deform, arachnodactyly)
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30
Q

What are the minor criteria for marfans?

A

High arched palate
Mitral valve prolapse
Jointhypermobile

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31
Q

WHat is McCune albright syndrome?

A

Polyostotic fibrous dysplasia

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32
Q

What re the features of McCune albright Syndrom?

A

CAfe Au lait pigmentation
precocious puberty
hyperactive endocrinopathies

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33
Q

What is aperts syndrome?

A

Craniosynotosis dsease

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34
Q

Which chromosome is implicated in aperts?

35
Q

Which gene is affected in aperts?

A

FGF2 receptor

36
Q

What is the key problem in aperts?

A

premature fusion of boney sutures

37
Q

What at the cranial features of aperts?

A

underdeveloped mid face
ridging along sutures
prominenet eyes
hearing loss and ear infections

38
Q

What are the hand and limb features?

A

webbing of toes and fingers

short limbs

39
Q

Which other disease falls into the same catergory as aperts?

A

craniosynotosis

Crouzon

40
Q

What gene is affected in crouzons disease?

41
Q

What features of crouzon syndrome exist?

A

cranial synotosis
exopthalmus
hyperterlorism
Psittichorina

42
Q

What dental features of crouzons exist?

A

Narrow high palate
Crowded teeth
hyposontia
cross bite and underbite

43
Q

What are the harmartoneoplastic syndromes exist?

A 
Cowden disease
Gardner syndrome
Gorlin Goltz
Sturge Webee
MEN
Peutz Jegher
Tuberous sclerosis
44
Q

What is gene is affected in Cowden disease?

A

tumour supressor gene PTEN on chromosome 10q23.3

45
Q

Where are there increased risk of malignancy in people with cowden syndrome?

A

Endometrium
thyroid
breast

46
Q

Where do people with cowden syndrome get cysts?

A

Bone and GU tract

47
Q

Where do cowden people get keratosis?

A

acral and palmoplantar

48
Q

Where do people with cowden disease get papillomas? What brain features do they have?

A

oral

Brain: macrocephaly reduced IQ and development of lhermitthite duclos disease

49
Q

Which mucocutanoues lesions do peoplw with cowdens get?

A 
mucosal tags
lipomas
haemangiomas
fibromas
facial trichilemmommas
50
Q

What is Gardners syndrome?

A

AD syndrome

variant of familial Adenomatous polyposis

51
Q

Which chromsome is affected in Gardners?

52
Q

What are the features of Grdeners in bone?

A

Benign osteomas
compound odontomes
dentigeous cysts

53
Q

What are the features of Gardners in the colon?

A

Multiple polyps in colon

HIGH MALOGNANCY RISK

54
Q

WHat are the features of Gardners on the skin?

A

Epidermal cysts, dermoid tumous, fibromasand neurofirbomas

55
Q

What is Gorlin Goltz Syndrome?

A

Navoid basal cell carcinoma syndrom

56
Q

What chromsome and gener is affected in GG?

57
Q

What are the bone features of GG?

A

Odontogenic keratocysts (usually in mandible of young child)
Rib and vertebral malformation
Bifid ribs
Kyphoskolisis

58
Q

What happens to the flax cerebri in GG?

A

early calcification

59
Q

What happnes to the skin in patients with GG?

A

basal cell carcinomas

60
Q

What facial features are there in GG?

A

fronto and temporoparital bossing
hypertelorism
mandibular prognathism

61
Q

What is srurge Weber syndrome?

A 
Port wine stain on face
ipsilateral haemangiomas within the brain and contralateral focal fitS
Calcification of the leptomeninges
Glaucoma
hemiplegia and learning impairment
62
Q

What is Peutz Jegher syndrome caused by?

A

AD condition

Caused by mutation of gene LKB1 on 19p

63
Q

What are the oral features of Peutz Jegher?

A

freckling on lips and mucosa

64
Q

Where else can freckling be in Peutz jegers?

A

palms and soles

65
Q

What GI feature is preset in Peutz Jegers?

A

bleeding and pbstructions due to polpys

66
Q

T/F the polyps in Peutz Jegher have a 0.3% risk of malignancy?

67
Q

Which two syndromes affect the skin and mucous membranes?

A

Ehlers danlos

HHT

68
Q

WHat is Ehlers danlos?

A

collagen production is impaired

69
Q

What kind of pattern of inheritence is associated with Ehlos Danlos?

A

AD, AR, X linked 10 types

70
Q

What are the features of Ehlers Danlos?

A

Hyperelastic skin
hypermobile and loose joints

Bleeds; GI, Brain, brusiing

Mitral valve prolapse and incompentance

71
Q

WHat dental features are associated with Ehlers Danlos?

A 
TMJ dislocation 
short deformed roots
pulp stones
Early onset Periodontal disease (4,8,9)
resistant to LA type 3
72
Q

What is HHT?

A

Oslers rendu weber
AD
multiple telangectasias of the skin and mucosa

73
Q

Where in the body can the arteriovenousmalormations arise in HHT?

A

pulmonary
hepatic
Brain

74
Q

WHat blood disease and how can people with HHT suffer from?

A

Chronic GI bleeding leads to anaemia

75
Q

What is treacher collins syndrome?

A

AD

mandibulofacial dysostosis

76
Q

Which gene is damaged in Treacher Collins?

A

treacle protein

TCOF1

77
Q

WHat are the features of Treacher Collins?

A 
Micrognathia
Downward slanting eyes
underdeveloped zygoma
drooping eyelids
malformed or absent ears
hearing loss
cleft palate
78
Q

What are rh features of Patau syndrome?

A 
Cleft lip and palate
Scalp defect
Small eyes
Small head
Small jaw
Undecesnded testicles
Low set ears
Eyes v close together
79
Q

What are the features of trisomy 18?

A 
Edwards
Rocker bottom feet
Microcephalic
Mucrothalmia
Micrognathia
Micrstomia 
Destinct clenched finger
80
Q

What is kinefleter? And what is the incidence?

81
Q

What are the feature of kinefleter?

A 
Hypogonadism
Narrow shoulder
Reduced muscle mass
Broad hips
Gynacomastia
Less facial and body hair
Female characteristics
Infertility
82
Q

What is Pierre robin syndrome?

A

Glossoptosis
Microghnathia
Cleft lip and palate

83
Q

What is RILey day syndrome?

A 
Insensitivity to pain 
5 types
1: AD late onset SPTLC1 9q
2|:AR infantile HSn2 12p
3:AR infantile IKBKAP 9q: abscence of fungiform papilloma, postural hypotension, emotional issues and abscence of tears 
4:AR infantile NTRK1q
5:AR infantile NGFB1q
84
Q

What is Marcus gun jaw winking syndrome?

A

AD
Trigeminal occulomotort synkinesis

Stimulation of lateral pterygoid excites ipsilateral levant or paloebre superiors

Oral Med (31 decks)

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