Week 5: Syndromes with Multiple Anomalies

Question 1

Inheritance of Rubinstein-Taybi Syndrome

Answer 1

AD

Question 2

3 major features Rubinstein-Taybi Syndrome

Answer 2

Broad thumbs and toes, cardiac defects, ID

Question 3

Inheritance of Treacher Collins Syndrome

Answer 3

AD

Question 4

3 major features of Treacher Collins Syndrome

Answer 4

Malar hypoplasia, lower lid coloboma, microtia

Question 5

Inheritance of Cornelia de Lange Syndrome

Answer 5

AD

Question 6

3 major features of Cornelia de Lange Syndrome

Answer 6

Prenatal growth deficiency, microcephaly, ID

Question 7

Inheritance of Stickler Syndrome

Answer 7

AD

Question 8

3 major features of Stickler Syndrome

Answer 8

Hearing loss, joint hyper mobility, early-onset arthritis

Question 9

Inheritance of Kabuki Syndrome

Answer 9

AD

Question 10

3 major features of Kabuki Syndrome

Answer 10

Growth problems, CHD, fetal fingertip pads

Question 11

Inheritance of NF1

Answer 11

AD

Question 12

Major features of NF1

Answer 12

CALs, Neurofibromas/plexiform neurofibromas, inguinal/axillary freckling, Lisch nodules, optic glioma, bony abnormality

Question 13

Inheritance of Noonan Syndrome

Answer 13

AD

Question 14

Major features of Noonan Syndrome

Answer 14

Short stature, CHD/HCM, DD, pectus deformity, broad/webbed neck, cryptorchidism, bleeding diathesis

Question 15

Inheritance of CHARGE syndrome

Answer 15

AD

Question 16

CHARGE stands for

Answer 16

Coloboma, Heart defects, Atresia choanal, Retarded growth and development, GU anomalies, Ear anomalies

Question 17

Inheritance of Waardenburg Syndrome

Answer 17

AD

Question 18

2 major features of Waardenburg Syndrome

Answer 18

SNHL, partial albinism (white forelock)

Question 19

Inheritance of Crouzon Syndrome

Answer 19

AD

Question 20

3 major features of Crouzon Syndrome

Answer 20

Craniosynostosis, cervical spine anomalies, mild shortening of humerus/femora

Question 21

Inheritance of Apert Syndrome

Answer 21

AD

Question 22

2 major features of Apert Syndrome

Answer 22

Craniosynostosis, mitten-type syndactyly

Question 23

Inheritance of Pfeiffer Syndrome

Answer 23

AD

Question 24

Pfeiffer syndrome characterized by

Answer 24

broad/angulated thumbs and great toes

Question 25

Inheritance of Muenke Syndrome

Answer 25

AD

Question 26

4 major features of Muenke Syndrome

Answer 26

Craniosynotosis, macrocephaly, anomalies of hands/feet, hearing loss

Question 27

Inheritance of Cleidocranial Dysplasia

Answer 27

AD

Question 28

4 major features of Cleidocranial Dysplasia

Answer 28

failure of closure of AF, Aplasia of clavicles, short stature, skeletal anomalies

Question 29

Inheritance of van Der Woude syndrome

Answer 29

AD

Question 30

2 major features of Van Der Woude

Answer 30

CL+P, lip pits

Question 31

Inheritance of BOR syndrome

Answer 31

AD

Question 32

3 major features of BOR syndrome

Answer 32

Branchial arch anomalies, ear anomalies with hearing loss, kidney abnormalities

Question 33

3 major features of 22q11

Answer 33

CHD, velopharyngeal incompetence, immunodeficiency

Question 34

3 major features of William's Syndrome

Answer 34

Supravalvular aortic stenos, hypercalcemia, Outgoing, Elfin face

Question 35

Deletion in Miller Dieker Syndrome

Answer 35

17p13.3

Question 36

Clinical features of Miller Dieker Syndrome

Answer 36

Lissencephaly, ID, microcephaly, seizures, feeding problems, hypotonia

Question 37

Inheritance of Smith Lemli Opitz syndrome

Answer 37

AR

Question 38

Clinical features of SLO

Answer 38

Microcephaly with ID, growth restriction, CHD, GU anomalies, Y-shaped 2-3 toe syndactyly

Question 39

3 major features of Zellweger syndrome

Answer 39

Neonatal hypotonia, growth restriction, hepatomegaly, limb contractures

Question 40

Inheritance of Zellweger syndrome

Answer 40

AR

Question 41

Inheritance of Oculocutaneous Albinism

Answer 41

AR

Question 42

3 major features of oculocutaneous albinism

Answer 42

Hypopigmentation of hair/skin, photophobia, reduced visual acuity

Question 43

Inheritance of Fraser Syndrome

Answer 43

AR

Question 44

2 major features of Fraser Syndrome

Answer 44

Cutaneous syndactyly, GU anomalies

Question 45

Inheritance of Rett Syndrome

Answer 45

XLD

Question 46

3 major features of Rett Syndrome

Answer 46

Developmental regression, acquired microcephaly, hand wringing, seizures

Question 47

Inheritance of Oto-Palato-Digital Syndrome

Answer 47

XL

Question 48

2 major features of Oto-Palatal-Digital Syndrome

Answer 48

Hearing loss, skeletal abnormalities

Question 49

Inheritance of XL-Hydrocephalus

Answer 49

XL

Question 50

Other feature in XL hydrocephalus

Answer 50

Thumb adduction

Question 51

Inheritance of BWS

Answer 51

Imprinting

Question 52

3 major clinical features of BWS

Answer 52

Macrosomia, Macroglossia, Abdominal wall defect

Question 53

Inheritance of Russell-Silver Syndrome

Answer 53

Imprinted

Question 54

3 major features of Russell-Silver Syndrome

Answer 54

Growth restriction, growth asymmetry, CALs

Question 55

Inheritance of Angelman Syndrome

Answer 55

Imprinted

Question 56

Inheritance of PWS

Answer 56

Imprinted

Question 57

3 major clinical features of Angelman Syndrome

Answer 57

Seizures, ataxic gait, DD, smiling/laughter

Question 58

3 major clinical features of PWS

Answer 58

Neonatal hypotonia, hyperphagia with obesity, underdeveloped genitals

Question 59

3 major features of hypohidrotic ectodermal dysplasia

Answer 59

Hypohidrosis, Hypotrichosis, hypodontia

Question 60

3 major features of Oral-Facial-Digital Syndrome

Answer 60

Cleft tongue, poly/syndactyly, characteristic face

Question 61

3 major features of Alport Syndrome

Answer 61

Hearing loss, renal problems, vision problems (anterior lenticonus)

Question 62

3 major feature of Fanconi Anemia

Answer 62

BM failure, short stature, radial ray defect , renal anomalies, increased risk for AML