Syndromes 1

Question 1

HGPRTase deficiency leading to excess serum uric acid
X linked recessive in boys only
Features: gout, renal failure, neurological deficits, learning difficulties, self mutilation

Answer 1

Lesch Nyhan syndrome

Question 2

RA + splenomegaly + low white cell count

Answer 2

Felty’s syndrome

Question 3

Dextrocardia, bronchiectasis, recurrent sinusitis, subfertility =

Answer 3

Kartagener’s syndrome

Question 4

Massive fibrotic nodules with occupational coal dust exposure

Answer 4

Caplan’s syndrome

Question 5

Common causes of vitreous haemorrhage (3)

Answer 5

Proliferative diabetic retinopathy
Posterior vitreous detachment
Ocular trauma

Question 6

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
=

Answer 6

Patau
Trisomy 13

Question 7

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
=

Answer 7

Edward syndrome
Trisomy 18

Question 8

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
=

Answer 8

Fragile X

Question 9

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
=

Answer 9

Noonan syndrome

Question 10

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
=

Answer 10

Pierre Robin syndrome

Question 11

Hypotonia
Hypogonadism
Obesity
=

Answer 11

Prader Willi syndrome

Question 12

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
=

Answer 12

William’s syndrome

Question 12

Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
=

Answer 12

Cri du chat syndrome (chromosome 5p deletion syndrome)