Paeds childhood syndromes

Question 1

Patau syndrome(trisomy 13)

Answer 1

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

Question 2

Edward’s syndrome(trisomy 18)

Answer 2

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

Question 3

Fragile X

Answer 3

• Learning difficulties
• Macrocephaly
• Long face
• Large ears
• Macro-orchidism
• Mitral valve prolapse

Question 4

Noonan syndrome

Answer 4

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

Question 5

Pierre-Robin syndrome

Answer 5

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

This condition has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems

Question 6

Prader-Willi syndrome

Answer 6

• Hypotonia
• Hypogonadism
• Obesity

Question 7

William’s syndrome

Answer 7

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

Question 8

Cri du chat syndrome (chromosome 5p deletion syndrome)

Answer 8

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

Question 9

Down’s syndrome (trisomy 21)

Answer 9

• Hypotonia
• Umbilical hernia
• Associated with Hirchsprung’s
• Face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, large protruding tongue, small low-set ears, round/flat face
• Flat occiput
• Single palmar crease, pronounced ‘sandal gap’ between big and first toe
• Congenital heart defects (40-50%)
• Duodenal atresia

Congenital heart defects:
multiple cardiac problems may be present
endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)

• Antenatal testing: thickened nucal translucency, increased beta HCG, decreased PAPP-A