Clinical Syndrome Deck

Question 1

Facial features of Noonan?

Answer 1

Blue/blue-green eyes
Down sloping eyes with epicanthic folds
Hooded eyes/ptosis
Hypertelorism
Flat broad nasal bridge
Diamond shaped eyebrows
Low set, forward pointing ears
Coarse curly hair

Question 2

Clinical characteristics of Noonan syndrome?

Answer 2

Pulmonary valve stenosis / HOCM
Short stature
Chest wall deformity
Developmental delay
Pubertal delay / cryptorchidism
Renal anomalies
Myloproliferative disorders - JMML

Question 3

T21 physical features?

Answer 3

Broad, flat face
Downslanting palpebral fissures with epicanthic folds
Short nose with flat nasal bridge
Low set ears
Large tongue
Single palmar crease
Sandal gap
Umbi hernia

Question 4

Associated complications of T21?

Answer 4

Intellectual impairment
Behavioural issues
Endocardial chusion defect - AVSD, ASD, VSD, TOF
Duodenal atresia/OA/Hirschprung
Coeliac
Transient myloproliferative disorders - Acute MegaKaryoblastic Leukaemia and APML
Hearing (otitis media) & vision (myopia/strabismus/keratoconus)
OSA
Endocrine - hypothyroid & T1DM
Females low fertility, males infertility
Atalnto-axial instability

Question 5

Facial features of Williams syndrome?

Answer 5

Broad forehead and bitemporal narrowing
Short nose with broad flat nasal bridge
Long flat philtrum
Wide mouth and full lips

Question 6

Clinical features assoc w Williams syndrome?

Answer 6

Supra-valvular AS and peripheral pulmonary stenosis
Hypertension
Hypercalcaemia and hypothyroidism
Short stature
ID
Renal tract anomalies

Question 7

DiGeorge/velocardiofacial syndrome facial features?

Answer 7

Small mid face
Short nose
Long flat philtrum
Hooded eyelids with ptosis

Question 8

DiGeorge clinical features?

Answer 8

Conotruncal cardiac defects - TOF, truncus, IAA
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcaemia/Hypoparathyroidism