syndromes of head and neck Flashcards by anisah h

what is a syndrome?

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

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WHat is a sequence?

series of ordered consequeneces which occur dut to a single cause

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What is a malformation?

abnormal structure due to irregular development

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what is deformation?

caused by mechanical stress on a normal structure

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what are congenital diseases?

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

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What are aqcuired diseases?

condition that develops after birth

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What are the causes of head and neck syndromes?

genetics and environmental

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

genetic

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What is an example of a teratogenic syndrome?

Fetal alcohol syndrome

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What are the features of fetal alcohol syndrome?

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

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What is an example of a chromosomsal syndrome?

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

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

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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what are the dental implications of downs syndrome?

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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What is patau syndrome? and what is the incidence?

1/10000

3 copies of chromosome 13

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What are the syndromes affecting the bone?

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

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

Abnromal type 1 collagen synthesis

reduced bone density and tendenacy to fractrure

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What features are there of Osteogensesis imperfecta?

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

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How many types of OI exist?

4 types

AD/AR/sporadic

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What is achondroplasia and what is the incidence?

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

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What are the features of achdondroplasia?

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

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What is osteopetrosis?

Defect in osteoclast activiy due to defective carbonic anhydrase enzyme

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WHat are the features of osteopetrosis?

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

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What is cleidocranial dysplasia?

AD defect affecting skul, jaws and clavicles

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What are the clavicular features of Cleidocranial dysplasia?

No/Some clavicles

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WHat are the maxillary features of cleidocranial dysplasia?

Poorly developed maxilla (high palate, narrow) | Retained primary teeth and elayed eruption of secondary teeth and increased risk of supernumaries

What are the skull features of cleidocranialdysplasia?

Sutures in skull remain open: frontoparietal bossing | Depressed nasal bridge and hyposplastic mid third

What is Marfans syndrome?

AD | Connective tissue disease

Which chromosome is affected in MArfans?

15q

What are the major criteria for marfans?

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

What are the minor criteria for marfans?

High arched palate Mitral valve prolapse Jointhypermobile

WHat is McCune albright syndrome?

Polyostotic fibrous dysplasia

What re the features of McCune albright Syndrom?

CAfe Au lait pigmentation precocious puberty hyperactive endocrinopathies

What is aperts syndrome?

Craniosynotosis dsease

Which chromosome is implicated in aperts?

Which gene is affected in aperts?

FGF2 receptor

What is the key problem in aperts?

premature fusion of boney sutures

What at the cranial features of aperts?

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

What are the hand and limb features?

webbing of toes and fingers | short limbs

Which other disease falls into the same catergory as aperts?

craniosynotosis | Crouzon

What gene is affected in crouzons disease?

FGF2 gene

What features of crouzon syndrome exist?

cranial synotosis exopthalmus hyperterlorism Psittichorina

What dental features of crouzons exist?

Narrow high palate Crowded teeth hyposontia cross bite and underbite

What are the harmartoneoplastic syndromes exist?

``` Cowden disease Gardner syndrome Gorlin Goltz Sturge Webee MEN Peutz Jegher Tuberous sclerosis ```

What is gene is affected in Cowden disease?

tumour supressor gene PTEN on chromosome 10q23.3

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

Endometrium thyroid breast

Where do people with cowden syndrome get cysts?

Bone and GU tract

Where do cowden people get keratosis?

acral and palmoplantar

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

oral Brain: macrocephaly reduced IQ and development of lhermitthite duclos disease

Which mucocutanoues lesions do peoplw with cowdens get?

``` mucosal tags lipomas haemangiomas fibromas facial trichilemmommas ```

What is Gardners syndrome?

AD syndrome | variant of familial Adenomatous polyposis

Which chromsome is affected in Gardners?

What are the features of Grdeners in bone?

Benign osteomas compound odontomes dentigeous cysts

What are the features of Gardners in the colon?

Multiple polyps in colon HIGH MALOGNANCY RISK

WHat are the features of Gardners on the skin?

Epidermal cysts, dermoid tumous, fibromasand neurofirbomas

What is Gorlin Goltz Syndrome?

Navoid basal cell carcinoma syndrom

What chromsome and gener is affected in GG?

9q | PTCH

What are the bone features of GG?

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

What happens to the flax cerebri in GG?

early calcification

What happnes to the skin in patients with GG?

basal cell carcinomas

What facial features are there in GG?

fronto and temporoparital bossing hypertelorism mandibular prognathism

What is srurge Weber syndrome?

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

What is Peutz Jegher syndrome caused by?

AD condition | Caused by mutation of gene LKB1 on 19p

What are the oral features of Peutz Jegher?

freckling on lips and mucosa

Where else can freckling be in Peutz jegers?

palms and soles

What GI feature is preset in Peutz Jegers?

bleeding and pbstructions due to polpys

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

F | 3%

Which two syndromes affect the skin and mucous membranes?

Ehlers danlos | HHT

WHat is Ehlers danlos?

collagen production is impaired

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

AD, AR, X linked 10 types

What are the features of Ehlers Danlos?

Hyperelastic skin hypermobile and loose joints Bleeds; GI, Brain, brusiing Mitral valve prolapse and incompentance

WHat dental features are associated with Ehlers Danlos?

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

What is HHT?

Oslers rendu weber AD multiple telangectasias of the skin and mucosa

Where in the body can the arteriovenousmalormations arise in HHT?

pulmonary hepatic Brain

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

Chronic GI bleeding leads to anaemia

What is treacher collins syndrome?

AD | mandibulofacial dysostosis

Which gene is damaged in Treacher Collins?

treacle protein | TCOF1

WHat are the features of Treacher Collins?

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

What are rh features of Patau syndrome?

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

What are the features of trisomy 18?

``` Edwards Rocker bottom feet Microcephalic Mucrothalmia Micrognathia Micrstomia Destinct clenched finger ```

What is kinefleter? And what is the incidence?

XXY | 1/750

What are the feature of kinefleter?

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

What is Pierre robin syndrome?

Glossoptosis Microghnathia Cleft lip and palate

What is RILey day syndrome?

``` 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 ```

What is Marcus gun jaw winking syndrome?

AD Trigeminal occulomotort synkinesis Stimulation of lateral pterygoid excites ipsilateral levant or paloebre superiors