Genetic & Common Craniofacial Syndromes

Question 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

Answer 1

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

Question 2

What are the different types of hereditary risks

Answer 2

• recessive inheritance

- autosomal dominant

Question 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

Answer 3

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%)

Question 4

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

Answer 4

True

Question 5

What is the recurrence rate for bilateral cleft palate/lip

Answer 5

5.6%

Question 6

What is the recurrence rate for unilateral cleft palate/lip

Answer 6

4.1%

Question 7

What is the recurrence rate for cleft lip without cleft palate

Answer 7

2.6%

Question 8

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

Answer 8

True; Multifactorial= combination of genes and environment

Question 9

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

Answer 9

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

Question 10

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

Answer 10

False; 1:700

Question 11

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

Answer 11

True

Question 12

Who is cleft more common in

Answer 12

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

Question 13

What ethnicity are clefts less common in

Answer 13

African Americans (1:2000)

Question 14

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

Answer 14

False; more common in boys (3:2)

Question 15

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

Answer 15

True

Question 16

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

Answer 16

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

Question 17

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

Answer 17

True

Question 18

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

Answer 18

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

Question 19

Describe stickler syndrome, type II

Answer 19

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

Question 20

Describe Osmed syndrome

Answer 20

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

Question 21

describe shprintzen-goldberg syndrome

Answer 21

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

Question 22

describe simpson dysmorphia syndrome

Answer 22

• 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

Question 23

describe Phenylketonuria

Answer 23

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

Question 24

describe retinoblastoma

Answer 24

• 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

Question 25

describe holoprosencephaly, type 3

Answer 25

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

Question 26

describe crouzon craniofacial dysostosis

Answer 26

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

Question 27

describe jackson-weiss syndrome

Answer 27

- autosomal dominant | - craniosynostosis, midfacial hypoplasia

Question 28

describe apert syndrome

Answer 28

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

Question 29

describe pfeiffer syndrome

Answer 29

- autosomal dominant - mild craniosynostosis - flat facies - acrocephaly

Question 30

describe beare-stevenson cutis gyrate syndrome

Answer 30

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

Question 31

describe zellweger syndrome-3

Answer 31

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

Question 32

describe diastrophic dysplasia

Answer 32

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

Question 33

describe neonatal osseous dysplasia I

Answer 33

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

Question 34

describe basal cell nevus syndrome (Gorlin syndrome)

Answer 34

- 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

Question 35

describe waaredenburg syndrome type IIA

Answer 35

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

Question 36

describe palmister-hall syndrome

Answer 36

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

Question 37

describe waardenburg syndrome type I

Answer 37

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

Question 38

describe campomelic dysplasia

Answer 38

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

Question 39

describe saethre-chotzen syndrome

Answer 39

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

Question 40

describe DiGeorge syndrome

Answer 40

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

Question 41

describe velocardiofacial syndrome

Answer 41

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

Question 42

describe tracher collins mandibular dysostosis

Answer 42

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