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RACP Written Exam Cram Series > Syndrome Cram > Flashcards

Syndrome Cram Flashcards

1
Q

Difference between Prader-Willi and Angelman?

A

Both 15q11-13 - Prader-Willi only maternal contribution, Angelman only paternal contribution
PW - hypotonia, FTT, feeding difficulty then overeating & obesity and mild ID in childhood. SNRPN gene
Angelman - hypertonic, severe ID and intractable seizures. UBE3A gene

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2
Q

Short and obese child DDx?

A

PWS - hypotonia infancy, mild ID
Bardet-Biedel - renal anomalies, loss of vision, hypogenitalism
16p11.2 deletion obesity without overeating behaviour
Cohen - “wave shaped” palpebral fissures and microcephaly

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3
Q

Difference between BWS and Russel-Silver?

A

Both 11p15 methylation, IGF-2 gene affected.
BWS paternal UPD, RS maternal UPD. RS can also be caused by maternal UPD on 7
BWS - macrosomia, macroglossia, omphalocele, hemihypertrophy,
RS - IUGR, growth retardation, hemihypertrophy, neurodev delay

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4
Q

BWS malignancy risk?

A

Wilms - abdo US 3/12
Hepatoblastoma - serum AFP
Screen until age 8

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5
Q

Coat hanger ribs/bell shaped chest?

A

Paternal UPD 14q

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6
Q

Williams syndrome genetic cause, test of choice and clinical manifestations?

A

7q11 microdeletion, test w FISH for 7q
Elf like features. ID & cocktail party personality
Supravavular aortic stenosis (sometimes peripheral pulmonary stenosis), prolonged QT, SCD due to outflow tract obstruction
High calcium
Inguinal hernia, diverticula

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7
Q

DiGeorge/22q11/velocardiofacial syndrome genetic cause, test of choice and clinical manifestation?

A

Autosomal dominant 22q11 causing disruption of 3rd & 4th pharyngeal pouch. FISH for 22q
Conotruncal defect - ToF, truncus, IAA
Hypoplastic thymus - lymphopenia (1% have SCID)
Hypocalcaemia
Cleft palate
Psychosis

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8
Q

1q21.1 microdeletion vs duplication

A

Microdeletion - microcephaly ?TAR ?schizophrenia

Duplication - macrocephaly

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9
Q

15q11.2 microdeletion

A

Neurodev delay
Language delay
Psychosis

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10
Q

16p13.11 deletion

A

Short stature
Dev delay
Behaviour/psychiatric problems
Idiopathic epilepsy

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11
Q

Most common form of inherited intellectual disability?

A

Fragile X

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12
Q

Most common cause of primary hypogonadism?

A

Kleinfelter

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13
Q

Kleinfelter clinical presentation?

A 
Hypospadias/cryptochordism/micropenis
Learning disability/autistic traits/behaviour problems
Delayed puberty, small testes
Gynaecomastia
INFERTILITY
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14
Q

Turner clinical presentation?

A 
Short stature
Congenital lymphoedema
Early ovarian failure/primary amenorrhea
Risk of gonadoblastoma
Aortic valve disease (bicuspid), aortic dilatation/dissection
Autoimmune endocrinopathy - hypothyroidism, DM
Renal anomalies
Otitis media/conductive hearing loss
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15
Q

Impact of extra sex chromosomes on phenotype?

A

For every extra sex chromosome IQ drop of 10 and more severe phenotype

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16
Q

Trisomy 18/Edward clinical presentation?

A 
IUGR & polyhydramnios
Hypertonia
Prominent occiput w small mouth and micrognathia
Flexed overlapping fingers
Horseshoe kidney
17
Q

Trisomy 13/Patau clinical presentation?

A 
Micro/anophthalmia
Cleft lip and/or palate
Postaxial polydactyly
Holoprosencephaly
Cardiac anomalies
18
Q

Trisomy 8 clinical presentation?

A

Always mosaic otherwise FIDU

Genesis of corpus callous & ventriculomegaly

19
Q

Noonan Syndrome clinical presentation?

A

Dysmorphic face
Dev delay
Chest wall deformity
Pulmonary valve stenosis/hypertrophic cardiomyopathy
Cryptorchidism
Lymphatic dysplasia/easy brushing & bleeding (partial FVII def)

20
Q

Genetic cause and of Noonan?

A

Autosomal dominant RAS-MAPK defect

21
Q

Malignancy risk in Noonan?

A

JMML

22
Q

CHARGE genetic cause and presentation?

A 
Autosomal dominant CHD7 gene mutation
Coloboma
Heart defect
choanal Atresia
Retardation of growth/dev
Genitourinary anomalies
Ear anomalies
23
Q

Alagille genetic cause and presentation?

A

Autosomal dominant JAG1/NOTCH2
Paucity of intralobar bile ducts (cholestasis, hepatitis, jaundice, cirrhosis)
Peripheral pulmonary stenosis (less common TOF)
Butterfly vertebrae
Posterior embryotoxin
Renal abnormalities

24
Q

Marfan syndrome genetic cause and key clinical findings?

A

FBN1 autosomal dominant
Aortic root dilatation
Ectopia lentis

25
Q

Differential diagnosis of patient with marfanoid features (tall, lanky, hyper mobile, high arched palate) and differentiating features?

A

Marfan - ectopia lentis with upwards dislocation and aortic root dilatation, normal intellect
Homocysteinuria - ectopia lentis with downward dislocation, mental retardation
Loueys-Dietz - bifid uvula, cleft palate/craniosynostosis, velvet skin
Stickler - Pierre robin sequence with myopia/glaucoma/retinal detachment
Kleinefelter - small testes, mental retardation

26
Q

Osteogenesis imperfect genetic cause and clinical presentation?

A 
Autosomal dominant mutation of collagen COL1A1/COL1A2 gene
Bone breaks/"wormian" bones
Short stature
Scoliosis
Blue sclera
Hearing loss
27
Q

Triplet repeat disorders?

A

Fragile X
Friedrich Ataxia
Myotonic Dystrophy

28
Q

Fragile X genetic cause, test of choice and clinical presentation?

A 
X-liked recessive trinucleotide repeat disorder
Triplet repeat measurement of FMR1 gene
Long face, high arched palate
Mitral valve prolapse
Large testes
Mental retardation. Behavioural/autism
29
Q

Friedrich ataxia genetic cause, test of choice and clinical presentation?

A

Autosomal recessive trinucleotide repeat disorder
GAA triplet repeat expansions in frataxin (FXN) gene
Teenage onset gait ataxia, weakness, loss of deep reflexes
Hypertrophic cardiomyopathy
Scoliosis
Diabetes

30
Q

Myotonic Dystrophy genetic cause, test of choice and clinical presentation?

A

Autosomal dominant trinucleotide repeat disorder
CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene
Weak facies
Muscle weakness AND PAIN. Myotonia (delayed muscle relaxation)
Respiratory insufficiency
Cardiac conduction abnormalities/cardiomyopathy
Cataracts

RACP Written Exam Cram Series (19 decks)

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