Paediatric Syndromes

Question 1

What is WILLIAM’S SYNDROME?

Answer 1

An inherited neurodevelopmental disorder - caused by a microdeletion on chromosome 7

Features:

• Elf-like features
• Characteristic friendliness and sociability
• Learning difficulties
• Short statures
• Transient neonatal hypercalcaemia
• Supravalvular aortic stenosis

Question 2

What is ACHONDROPLASIA?

Answer 2

Autosomal dominant disorder associated with short stature due to mutation of FGFR-3 gene.
Features:
- Short limbs/fingers
- Large head/narrow foramen magnum 
- Flattened nasal bridge
- 'Trident' hands 
- Lumbar lordosis 

Risk factors: Advancing parental age at time of conception

Question 3

What is FRAGILE X SYNDROME?

Answer 3

An X-linked dominant condition

• Macrocephaly
• Large low set ears, long thin face, high arched palate
• Macro - orchidism
• Hypotonia
• Mitral valve prolapse
• Learning difficulties/autism

In females, features are milder to normal. This can be diagnosed antenatally

Question 4

What causes AMBIGUOUS GENITALIA?

Answer 4

• Congenital adrenal hyperplasia (most common)
• True hermaphroditism
• Maternal ingestion of androgens

Question 5

What is ALPHA - THALASSAEMIA?

Answer 5

• Deficiency of alpha chains in haemoglobin
• Clinical severity depends on number of alpha globulin alleles affected

1-2 = Hypochromic + microcytic RBC but normal Hb levels 
3 = Hypochromic + microcytic anaemia, splenomegaly (aka Hb H disease) 
4 = Death in utero (hydrops fetalis/Bart's hydrops)

Question 6

What are the features + management of THREADWORMS?

Answer 6

Occurs after swallowing eggs in the environment

• Perianal itching, particularly at night
• Girls may have vulval symptoms

Management:

• Antihelmintic with hygiene measures for ALL members of the household
• Single dose of Mebendazole for children, >6months unless infection persists

Question 7

What are the features of PATAU SYNDROME (Trisomy 13)?

Answer 7

• Microcephalic, small eyes, intellectual disability
• Cleft lip/palate, rocker bottom feet
• Polydactyly
• Abnormal genitalia, kidney defects
• Dextrocardia
• Scalp lesions

Children may only live for the first few days/weeks of life

Question 8

What are the features of EDWARD’S SYNDROME (Trisomy 18)?

Answer 8

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

Many die in utero, whilst 5-10% survive till 1y

Question 9

What are the features of NOONAN SYNDROME?

Answer 9

• Webbed neck
• Pectus excavatum
• Short stature
• Pulmonary stenosis

Question 10

What are the features of PIERRE-ROBIN SYNDROME?

Answer 10

• Micrognathia
• Posterior displacement of the tongue
• Cleft Palate

Question 11

What are the features of CRI DU CHAT SYNDROME?

Answer 11

• Characteristic cry due to larynx and neurological problems
• Feeding difficulties and poor weight gain
• Microcephaly and micrognathism
• Hypertelorism
• Learning difficulties