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RACP Paeds Written Exam > ULTIMATE SYNDROME DECK > Flashcards

ULTIMATE SYNDROME DECK Flashcards

1
Q

Facies - upslanting palpebral fissures, epicanthal folds, low set ears, flat nasal bridge
Sandal gap, single palmar crease
AVSD
Hypotonia

A

T21

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2
Q

Acute megakaryoblastic leukaemia

ALL/AML

A

T21

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3
Q 
Deafness
Vision problems
Hypothyroidism
Coeliac
Duodenal atresia
T1DM
A

T21

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4
Q 
Eunochoid body habitus
Gynaecomastia
Small testes
Low IQ
ANgry/ASD/ADHD/emotionally immature
A

Kleinefelter XXY

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5
Q

Mitral valve prolapse

A

Kleinefelter XXY

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6
Q

Breast Ca, extra gonadal germ cell tumours

A

Kleinefelter XXY

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7
Q 
Short stature
Infertility/ovarian failure
Increased upper:lower segment
Defective dental development
Recurrent otitis media
Sensorineural deafness
A

Turner XO

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8
Q

Aortic arch malformation, bicuspid aortic valve, coarctation

A

Turner XO

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9
Q

Oedema of hands and feet at birth

A

Turner XO

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10
Q 
Micro/anophthalmia
Cleft lip/palate
Postaxial polydactyly
Scalp defects
VSD/PDA/ASD
Coloboma
A

T13 - Patau

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11
Q 
Rockerbottom foot
FIsted hands
Wizened features
VSD/PDA
IUGR
Meckel's, malrotation or omphalocele
A

T18 - Edward

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12
Q 
Short
Puffy eyes
Long flat philtrum
Dev delay
Over friendly, socially disinhibited, ADHD, excessive empathy
A

William Syndrome

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13
Q

Supravalvular aortic stenosis

Peripheral pulmonary stenosis

A

William Syndrome

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14
Q

Hypercalcaemia
Hypercalcuria
Early puberty

A

William

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15
Q 
Cardiac - truncus arteriosis, ToF, IAA
Abnormal facies - prominent nose w large nares, small mouth, small ears
Thymic hypoplasia (impaired T cells)
Cleft palate
Hypocalcaemia
A

22q11 DiGeorge

“CATCH22”

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16
Q 
Pre and post-natal growth restriction
Microcephaly
Greek helmet facies
Severe ID
Recurrent aspiration
ASD, VSD, PS
A

Wolf Hirshom

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17
Q

What is most common and second most common trisomy?

A

1 - T21

2 - T18

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18
Q

Most common translocation assoc w T21?

A

14;21

if 21;21 then recurrence rate is 100%

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19
Q

Inheritance of William?

A

AD, usually de novo

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20
Q

Failure of 3rd & 4th pharyngeal pouch to form?

A

22q11 - Di George

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21
Q

Genetic cause of Prader-WIlli?

A

Absence of paternal 15q
Either de novo deletion (70%) or maternal uniparental disomy (28%)
2% have mutation/deletion in imprinting centre - 50% inheritence

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22
Q 
Neonatal hypotonia
Undescended testes
Voracious appetite +++
ID
Obesity
Hypopigmentation
Small hands/feet
A

Prader-Willi

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23
Q 
Premature adrenarache w delayed other secondary sex characteristics
OCD, autism
Cognitive impairment
Epilepsy
Scoliosis
A

Prader-Willi

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24
Q

Genetic cause of Angelman?

A

Deletion of maternal 15q
70% de novo deletion
5% paternal uniparental disomy

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25
Q 
Microcephaly
ID w absent speech
Hand flapping
Ataxia
Laughter
Loves water
A

Angelman

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26
Q

Abnormal EEG with large amplitude slow spike waves in the absence of seizures

A

Angelman

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27
Q

Genetic cause of BWS?

A

Paternal over expression at 11p13 resulting in overactivity of IGF2
Assoc w IVF (loss of IC2 methylation)
Sporadic (85%)
AD (15%)

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28
Q 
Macrosomia, macroglossia, hemihypertrophy
Abdominal wall defects
Dysmorphic ears
Hyperinsulinism, hypoglycaemia
Wilms, hepatoblastoma, neuroblastoma
A

Beckwith Widemann

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29
Q

Which phenotypic factor is most strongly associated w tumour development in BWS?

A

Hemihypertrophy

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30
Q

Risk period of tumour development in BWS?

A

0-8 years

USS 3/12 until age 8

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31
Q

Genetic cause of Russell Silver?

A

Maternal over expression at 11p resulting in underactivity of IGF2
60% sporadic deletion, 10% maternal uniparental disomy

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32
Q 
SGA w large head
Prominent forehead, triangle face
Hemihypertrophy
Hypotonia
Hypoglycaemia
A

Russel Silver

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33
Q 
Hirsutism
Unibrow, long eyelashes
Ulnar ray defect
Severe GOR
PS, VSD, ASD
A

Cornelia de Lange

34
Q

Inheritance of Cornelia de Lange?

A

Single gene mutation
NIPBL = 60%
SMC1A = 5%
Usually AD, de novo

35
Q 
Short stature
Webbed neck
PVS
Dev delay
Coag defects
A

Noonan

36
Q

Inheritance of Noonan?

A

Single gene
PTPN11 - 50%
Interrupts Ras-MAPK
AD 2/3 de novo

37
Q 
Lentigines
ECG conduction defects & HOCM
Ocular hypertelorism
Pulmonary stenosis
Abnormalities of genitalia
Retarded growth
Deafness
A

LEOPARD syndrome

38
Q 
FTT
Dev delay / ID
Coarse facial features, loose skin w deep palmar/plantar creases
Papillomata of face & perianal region
Hypotonia, joint laxity, tight achilles
A

Costello

39
Q

Inheritance of Costello?

A

Single gene

HRAS missense mutation causing defect in Ras/MAPK

40
Q 
Prolonged feeding abnormality -> FTT
Seizures
Tall forehead, low ears, sparse curly hair
Hyperkeratosis
Dystrophic nails
HOCM, PS
A

Cardiofacicocutaneous syndrome

41
Q

Inheritance of Cardiofacicocutaneous Syndrome?

A

Single gene
AD
BRAF/MAP2K/KRAS

42
Q

Overgrowth (height & HC >2SDs above)
High hair line
Broad & prominent forehead
Learning disability

A

Sotos syndrome

43
Q

Inheritance of Sotos?

A

Single gene
NSD1
AD >95% de novo

44
Q 
Tall, long limbed, thin
Joint hypermobility
Aortic dissection/AR/MR
Chest wall deformity
Lens dislocation UPWARDS
Normal IQ
A

Marfan

45
Q

Inheritance of Marfan?

A

Single gene
FBN1
Defective fibrillin (connective tissue)
75% have one affect parent, 25% de novo

46
Q 
Tall, long limbed
ID
Lens dislocation (DOWNWARDS)
Thromboembolism
Seizures
A

Homocystinuria

47
Q

Investigation and management for homocysteinuria?

A

Plasma total homocysteine and methionine will be markedly elevated
B6 if responsive, methionine restricted diet, folate & B12

48
Q

Inheritance of homocysteinuria?

A

Single gene
CBS mutation
AR

49
Q 
Fractures
Dental abnormalities
Hearing loss
Blue sclera
Osteoporosis
Wormian bones
A

Osteogenesis Imperfecta

50
Q

Inheritance of OI?

A 
Single gene
COL1A1 most common
COL1A2 second most common
Classic OI - 60% de novo
Deforming/perinatally lethal OI - 100% de novo
51
Q 
Short limbed dwarfism
Proximal limbs 
Midface hypoplasia
Hyperextensible joints
Delayed motor milestones
Sleep apnoea
A

Achondroplasia

52
Q

Inheritance of Achondroplasia?

A

Single gene
FGFR3 - fibroblast growth factor
AD - 80% de novo
Homozygous mutation usually lethal in newborn period

53
Q 
Intrahepatic biliary dysgenesis
Butterfly vertebrae
Pulmonary stenosis
Tubulointerstital nephropathy/structural renal abnormalities
Posterior embryotoxin
A

Alagille Syndrome

54
Q

Inheritance of Alagille?

A 
Single gene
JAG1 - most common
NOTCH2 - second
30-50% inherited, 50-70% de novo
AD
55
Q 
Coloboma
Heart defect
choAnal atresia
Retarded growth & dev
Genital abnormalities
Ear abnormalities "snipped off helix"
A

CHARGE

56
Q

Inheritance of CHARGE?

A

Single gene
CHD7
AD usually de novo

57
Q

Deafness
Ear abnormalities
Brachial fistulae/cysts under SCM
Renal agensis/hypoplasia/dysplasia

A

Brachio-Oto-Renal syndrome

58
Q

Inheritance of Brachio-Oto-Renal syndrome?

A

SIngle gene
EYA1 mutation
AD
Abnormalities of 1st and 2nd brachial arches

59
Q 
Cone-rod dystrophy
Obesity
Insulin resistance
Progressive sensori-neural hearing loss
Dilated/restrictive cardiomyopathy
Multiple organ failure
A

Alstrom syndrome

60
Q 
Rod-cone dystrophy (night blindness by 7-8, legal blindness by 16)
Truncal obesity
Post-axial polydactyly
Cognitive impairment/learning idsability
Urogenital abnormalities
A

Bardet-Biedel

61
Q

Growth deficiency, reduced subcut fat
Erythematous, sun sensitive skin with cafe au lait spots
Microcephaly
Prominent ears and predisposition to otitis media and recurrent sinus/resp infections
Diabetes
Infertility
50% cancer risk by age of 25

A

Bloom syndrome

62
Q

Supernumerary teeth

Bone abnormalities

A

Cleidocranial dysostosis

63
Q 
Large ears and nose, sunken eyes
Short stature
Neurological degeneration
Cataracts, pigmented retinopathy
Sun sensitivity
A

Cockayne syndrome

64
Q 
Skeletal malformation of radial/thenar/carpal bones
Vertebral anomalies
Sloping shoulders
Secundum ASD, VSD
Cardiac conduction disease
A

Holt Oram

65
Q

Segmental/patchy overgrowth syndrome
Normal until toddler years
Pre-disposition to tumuors, DVT and PE

A

Proteus syndrome

66
Q 
Bitemorpal narrowing and ptosis with upturned nostrils
2-3 syndactyly
Post-axial polydactyly
Microcephaly & ID
Growth retardation
Cleft
Congenital cataracts
Anomalous pulmonary venous return
High cholesterol
A

Smith-Lemli-Opitz

67
Q 
Hemifacial microsomia
Conductive hearing loss
Manibular abnormalities
Vertebral defects
ToF/VSD
A

Goldenhar

68
Q

Hypoplasia of midface
Ear abnormalities, conductive hearing loss
Eyelid coloboma, sloping eyes, no lower eyelashes

A

Treacher-Collins

69
Q

Micrognathia
Glossoptosis
Cleft palate
Airway obstruction & feeding difficulties

A

Pierre-Robin Sequence

70
Q

Cause of Pierre-Robin Sequence?

A

Mandibular hypoplasia, prior to week 9 post-conception

Under-developed lower jaw leads to abnormal placement of tongue, cleft palate and airway obstruction

71
Q

Commonest syndrome assoc w PRS?

A

Stickler syndrome

72
Q

PRS +
Myopia/cataract/retinal detachment
Hearing loss - conductive and sensorineural
SUFE/Perthes

A

Stickler syndrome

73
Q 
Large ears
Macro-orchidism post puberty
Long face & prominant jaw
Dev delay at 2-4years and ID (IQ 30-50)
ASD/eye contact avoidant
A

Fragile X

74
Q

Inheritance of fragile X?

A

X linked domiannt (females may have symptoms)
Trinucleotide repeat disorder <55 repeats normal, 55-200 “pre-mutation”, >200 full mutation
CANNOT BE DETECTED ON MICROARRAY/SEQUENCING - needs PCR or southern blot

75
Q

Fragile X premutation presentation?

A

Shy, late onset cerebellar ataxia and intention tremor

76
Q

Progressive motor, cognitive and psychiatric disturbance

Average age of onset 35-45

A

Huntington’s

77
Q 
High pitch cat like crying
Round face, downslanting palpebral fissures, broad nose, low set ears
Microcephaly
FTT
Hypotonia
Psychomotor delay
A

Cri du Chat

Partial deletion chromosome 5

78
Q 
Bifid uvula
Aortic dilatation
Wide spaced eyes
Scoliosis
Joint laxity
Talipes
A

Loeys-Ditz syndrome

79
Q 
Flat philtrum
Thin upper lip
Jittery babies
Reduced brain volume
Learning disability/dev delay
Short stature, microcephaly
ASD/VSD, conotruncal defects
A

Fetal Alcohol Syndrome

80
Q 
Vertebral anomaly
Anal abnormality
Cardiac - VSD/TOF
Tracheo-oesophageal fistula
Renal anomaly (single umbi artery)
Limb abnormality
A

VACTERL association

Not a syndrome- unknown cause

RACP Paeds Written Exam (15 decks)

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