Genetic & Common Craniofacial Syndromes Flashcards Preview

cleft test 1 > Genetic & Common Craniofacial Syndromes > Flashcards

Flashcards in Genetic & Common Craniofacial Syndromes Deck (42):
1

T/F: syndromes are less common in cleft palate alone than in cleft lip with or without cleft palate, but can occur in any of these

False; syndromes are MORE common in cleft palate alone than in cleft lip with or without cleft palate, but can occur in any of these

2

What are the different types of hereditary risks

-recessive inheritance
-autosomal dominant

3

T/F: If it can be established that there are no other affected relatives, the risk to siblings is more than the overall risk

False; If it can be established that there are no other affected relatives, the risk to siblings (2.2%) is less than the overall risk (4%)

4

T/F: Recurrence is also influenced by how severe the cleft is

True

5

What is the recurrence rate for bilateral cleft palate/lip

5.6%

6

What is the recurrence rate for unilateral cleft palate/lip

4.1%

7

What is the recurrence rate for cleft lip without cleft palate

2.6%

8

T/F: If neither parent has a cleft than the inheritance is probably either multifactorial or recessive and these are usually not distinguishable

True; Multifactorial= combination of genes and environment

9

T/F: approximately 10% chance of having another similarly affected

False; 3-5% (risk increases more if have more than 1 affected child)

10

T/F: 1:600 live births in each year are affected by cleft

False; 1:700

11

T/F: between 1/5000 and 1/1000 for cleft lip and/or cleft palate and about 1/2500 for cleft palate alone

True

12

Who is cleft more common in

-Asians (1:500)
-certain groups of american indians (1:300)
- caucasians (1:800)

13

What ethnicity are clefts less common in

African Americans (1:2000)

14

T/F: cleft lip and cleft palate together are more common in girls

False; more common in boys (3:2)

15

T/F: cleft palate may result from a combination of genetic and environmental factors

True

16

T/F: Scientist have identified a single gene and a genetic circuit that when broken causes cleft palate in newborn mice

False; Scientist have identified NOT JUST A SINGLE GENE BUT genetic circuit that when broken causes cleft palate in newborn mice

17

T/F: Familial patterns and gene mapping are involved in oral-facial clefts

True

18

T/F: gene ID's are not shown to contribute to syndrome and non syndrome cleft palate/lip

False; gene ID's ARE shown to contribute to syndrome and non syndrome cleft palate/lip

19

Describe stickler syndrome, type II

-Autosomal dominant
-cleft palate
-micrognathia
-glossoptosis
-severe myopia
-flat facies
-dental anomalies
-deafness

20

Describe Osmed syndrome

-autosomal recessive
-saddle nose
-cleft palate
-progressive deafness

21

describe shprintzen-goldberg syndrome

-autosomal dominant
-craniosynotosis
-microcephaly
-maxillary and mandibular hypoplasia
-palatal shelf soft tissue hypertrophy
-cleft palate
-prominent nose
-narrow palpebral fissures

22

describe simpson dysmorphia syndrome

-X chromosome
-disproportionately large head
-coarse facies
-large protruding jaw
-wide nasal bridge
-upturned nasal tip
-large mouth
-thickened lips
-central cleft of lower lip
-midline groove of tongue and inferior alveolar ridge
-enlarged tongue
-short neck

23

describe Phenylketonuria

- autosomal recessive
-microcephaly
-occasional cleft palate
-long simple philtrum
-thin upper lip
-flattened nasal bridge
-epicanthus
-upturned nose

24

describe retinoblastoma

-autosomal dominant
-cleft palate
-high forehead
-prominent eyebrows
-broad nasal bridge
-bulbous tip of the nose
-large mouth with thin upper lip
-long philtrum
-prominent earlobes

25

describe holoprosencephaly, type 3

-autosomal dominant
-cyclopia
-ocular hypotelorism
-proboscis
-midface hypoplasia
-single nostril
-midline cleft upper lip
-premaxillary agenesis

26

describe crouzon craniofacial dysostosis

-autosomal dominant
-craniosynostosis
-parrot-beaked nose
-short upper lip
-hypoplastic maxilla
-relative mandibular prognathism
-shallow orbit

27

describe jackson-weiss syndrome

-autosomal dominant
-craniosynostosis, midfacial hypoplasia

28

describe apert syndrome

-autosomal dominant
-craniosynostosis
-brachysphenocephalic acrocephaly
-flat facies
-high narrow palate

29

describe pfeiffer syndrome

-autosomal dominant
-mild craniosynostosis
-flat facies
-acrocephaly

30

describe beare-stevenson cutis gyrate syndrome

-autosomal dominant
-craniosynostosis
-cloverleaf skull
-cleft palate or uvula
-craniofacial anomalies

31

describe zellweger syndrome-3

-autosomal dominant
-high forehead
-dolichoturricephaly
-large fontanels
-flat face
-round face
-hypoplastic supraorbital ridge
-epicanthus
-cleft palate

32

describe diastrophic dysplasia

-autosomal recessive
-hypertrophic auricular cartilage
-cleft palate
-micrognathia

33

describe neonatal osseous dysplasia I

-autosomal recessive
-micrognathia
-cleft palate
-flat nasal bridge
-mid-face hypoplasia
-neonatal osseous dysplasia
-lethal chondrodysplasia

34

describe basal cell nevus syndrome (Gorlin syndrome)

-autosomal dominant
-macrocephaly
-broad facies
-frontal and biparietal bossing
-mild mandibular prognathism
-odontogenic keratocysts of jaws
-misshapen and/or carious teeth
-cleft lip and palate
-ectopic calcification of falx cerebri

35

describe waaredenburg syndrome type IIA

-autosomal dominant
-wide nasal bridge
-short philtrum
-cleft lip or palate
-deafness

36

describe palmister-hall syndrome

-autosomal dominant
-short nose
-flat nasal bridge
-multiple buccal frenula
-microglossia
-micrognathia
-cleft palate
-malformed ears

37

describe waardenburg syndrome type I

-autosomal dominant
-wide nasal bridge
-short philtrum
-cleft lip or palate
-occasional deafness
-dystopia canthorum

38

describe campomelic dysplasia

-autosomal recessive
-small chondrocranium
-large neurocranium
-occasional platybasia
-cleft palate
-retroglossia
-micrognathia
-flat nasal bridge
-malformed ears

39

describe saethre-chotzen syndrome

-autosomal dominant
-craniosynostosis
-acrocephaly
-brachycephaly
-flat facies
-thin long pointed nose
-cleft palate
-cranial asymmetry
-ptosis
-malformed ears

40

describe DiGeorge syndrome

-autosomal dominant
-low-set ears
-short ears
-small mouth
-submucous or overt palatal cleft
-cleft lip
-bulbous nose
-square nasal tip
-short philtrum
-micrognathia

41

describe velocardiofacial syndrome

-autosomal dominant
-Pierre Robin syndrome
-cleft palate
-small open mouth
-myopathic facies
-retrognathia
-prominent nose with squared- off nasal tip

42

describe tracher collins mandibular dysostosis

-autosomal dominant
-malar hypoplasia
-cleft palate
-mandibular hypoplasia
-macrostomia
-malformed ears
-sensorineural deafness
-coloboma of lower eyelid