genetic & common craniofacial syndromes

Question 1

prevalence of cleft

Answer 1

more common in asians and indian americans; less common in african americans; more common in boys 3:2 ratio

Question 2

research findings on cleft

Answer 2

combo of genetic & environmental factors; genetic circuit broken, familial patterns and gene mapping

Question 3

inheritance & recurrance

Answer 3

if neither parent has a cleft, multifactorial or recessive; 3-5% chance of having another child affected

Question 4

multifactorial hereditary risks

Answer 4

recessive inheritance; autosomal dominant; recurrence also influenced by how severe the cleft is

Question 5

syndrome co-occurrance

Answer 5

syndromes are more common in CP alone than in CL with or without CP but can occur in any of these

Question 6

stickler syndrome, type II

Answer 6

cleft palate, micrognathia, glossoptosis, severe myopia, flat faces, dental anomalies, deafness

Question 7

crouzon craniofacial dysopstosis

Answer 7

craniosynostosis, parrot beaked nose, short upper lip, hypoplastic maxilla, relative mandibular prognathism, shallow orbit

Question 8

apert syndrome

Answer 8

craniosynostosis, brachysphenocephalic, acrocephaly, flat faces, high narrow palate

Question 9

waardenburg syndrome, type I

Answer 9

wide nasal bridge, short philtrum, cleft lip or palate, occasional deafness, dystopia canthorum

Question 10

waardenburg syndrome, type IIA

Answer 10

wide nasal bridge, short philtrum, CL or CP, deafness

Question 11

DiGeorge syndrome

Answer 11

low set ears, short ears, small mouth, submucous or overt palatal cleft, CL, bulbous nose, square nasal tip, short philtrum, micrognathia

Question 12

treacher collins mandibulofacial dysostosis

Answer 12

malar hypoplasia, CP, mandibular hypoplasia, macrostomia, malformed ears, sensorineural deafness, coloboma of lower eyelid