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BOARD Exam > Week 5: Syndromes with Multiple Anomalies > Flashcards

Week 5: Syndromes with Multiple Anomalies Flashcards

1
Q

Inheritance of Rubinstein-Taybi Syndrome

A

AD

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2
Q

3 major features Rubinstein-Taybi Syndrome

A

Broad thumbs and toes, cardiac defects, ID

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3
Q

Inheritance of Treacher Collins Syndrome

A

AD

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4
Q

3 major features of Treacher Collins Syndrome

A

Malar hypoplasia, lower lid coloboma, microtia

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5
Q

Inheritance of Cornelia de Lange Syndrome

A

AD

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6
Q

3 major features of Cornelia de Lange Syndrome

A

Prenatal growth deficiency, microcephaly, ID

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7
Q

Inheritance of Stickler Syndrome

A

AD

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8
Q

3 major features of Stickler Syndrome

A

Hearing loss, joint hyper mobility, early-onset arthritis

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9
Q

Inheritance of Kabuki Syndrome

A

AD

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10
Q

3 major features of Kabuki Syndrome

A

Growth problems, CHD, fetal fingertip pads

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11
Q

Inheritance of NF1

A

AD

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12
Q

Major features of NF1

A

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

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13
Q

Inheritance of Noonan Syndrome

A

AD

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14
Q

Major features of Noonan Syndrome

A

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

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15
Q

Inheritance of CHARGE syndrome

A

AD

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16
Q

CHARGE stands for

A

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

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17
Q

Inheritance of Waardenburg Syndrome

A

AD

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18
Q

2 major features of Waardenburg Syndrome

A

SNHL, partial albinism (white forelock)

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19
Q

Inheritance of Crouzon Syndrome

A

AD

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20
Q

3 major features of Crouzon Syndrome

A

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

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21
Q

Inheritance of Apert Syndrome

A

AD

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22
Q

2 major features of Apert Syndrome

A

Craniosynostosis, mitten-type syndactyly

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23
Q

Inheritance of Pfeiffer Syndrome

A

AD

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24
Q

Pfeiffer syndrome characterized by

A

broad/angulated thumbs and great toes

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25
Q

Inheritance of Muenke Syndrome

A

AD

26
Q

4 major features of Muenke Syndrome

A

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

27
Q

Inheritance of Cleidocranial Dysplasia

A

AD

28
Q

4 major features of Cleidocranial Dysplasia

A

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

29
Q

Inheritance of van Der Woude syndrome

A

AD

30
Q

2 major features of Van Der Woude

A

CL+P, lip pits

31
Q

Inheritance of BOR syndrome

A

AD

32
Q

3 major features of BOR syndrome

A

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

33
Q

3 major features of 22q11

A

CHD, velopharyngeal incompetence, immunodeficiency

34
Q

3 major features of William’s Syndrome

A

Supravalvular aortic stenos, hypercalcemia, Outgoing, Elfin face

35
Q

Deletion in Miller Dieker Syndrome

A

17p13.3

36
Q

Clinical features of Miller Dieker Syndrome

A

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

37
Q

Inheritance of Smith Lemli Opitz syndrome

A

AR

38
Q

Clinical features of SLO

A

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

39
Q

3 major features of Zellweger syndrome

A

Neonatal hypotonia, growth restriction, hepatomegaly, limb contractures

40
Q

Inheritance of Zellweger syndrome

A

AR

41
Q

Inheritance of Oculocutaneous Albinism

A

AR

42
Q

3 major features of oculocutaneous albinism

A

Hypopigmentation of hair/skin, photophobia, reduced visual acuity

43
Q

Inheritance of Fraser Syndrome

A

AR

44
Q

2 major features of Fraser Syndrome

A

Cutaneous syndactyly, GU anomalies

45
Q

Inheritance of Rett Syndrome

A

XLD

46
Q

3 major features of Rett Syndrome

A

Developmental regression, acquired microcephaly, hand wringing, seizures

47
Q

Inheritance of Oto-Palato-Digital Syndrome

A

XL

48
Q

2 major features of Oto-Palatal-Digital Syndrome

A

Hearing loss, skeletal abnormalities

49
Q

Inheritance of XL-Hydrocephalus

A

XL

50
Q

Other feature in XL hydrocephalus

A

Thumb adduction

51
Q

Inheritance of BWS

A

Imprinting

52
Q

3 major clinical features of BWS

A

Macrosomia, Macroglossia, Abdominal wall defect

53
Q

Inheritance of Russell-Silver Syndrome

A

Imprinted

54
Q

3 major features of Russell-Silver Syndrome

A

Growth restriction, growth asymmetry, CALs

55
Q

Inheritance of Angelman Syndrome

A

Imprinted

56
Q

Inheritance of PWS

A

Imprinted

57
Q

3 major clinical features of Angelman Syndrome

A

Seizures, ataxic gait, DD, smiling/laughter

58
Q

3 major clinical features of PWS

A

Neonatal hypotonia, hyperphagia with obesity, underdeveloped genitals

59
Q

3 major features of hypohidrotic ectodermal dysplasia

A

Hypohidrosis, Hypotrichosis, hypodontia

60
Q

3 major features of Oral-Facial-Digital Syndrome

A

Cleft tongue, poly/syndactyly, characteristic face

61
Q

3 major features of Alport Syndrome

A

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

62
Q

3 major feature of Fanconi Anemia

A

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

BOARD Exam (28 decks)

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