Childhood Syndromes

Question 1

What is Down’s Syndrome

Answer 1

Trisomy 21 - 47 XX/Y (+21)

Question 2

What are the typical craniofacial appearance of someone with Down’s syndrome

Answer 2

Round face and flat nasal bridge
Up-slanted palpebral fissures
Epicanthic folds
Brushfield spots on iris (pigmented spots)
Small mouth and protruding tongue
High arched palate
Flat occiput and third fontanelle
Abdunant neck skin
Low set, small simple ears

Question 3

What are the other clinical features of someone with down’s syndrome

Answer 3

Short neck
Incurved and short fifth finger
Wide ‘sandal’ gap between toes 1 and 2
Hypotonia
Single palmar crease 
Broad hands
Intellectual disability

Question 4

What is Edward’s Syndrome?

Answer 4

Trisomy 18 47 XX/Y (+18)

Question 5

What are the clinical features of Edward’s syndrome?

Answer 5

Micrognathia (small jaw)
Low-set ears
Rocker bottom feet – twisted feet 
Overlapping of fingers 
Medium lifespan 5-15 days with only 10% surviving past 1 year

Question 6

What is Patau’s Syndrome?

Answer 6

Trisomy 13 47 XX/Y (+13)

Question 7

What are the clinical features of Patau’s syndrome?

Answer 7

Microcephaly
Small eyes 
Cleft lip/palate
Polydactyly 
Scalp lesions
90% die within the 1st year of life

Question 8

What is Turner’s Syndrome?

Answer 8

Monosomy X, 45 XO

Can also be as a result of the deletion on the short arm of one of the X chromosomes.

Question 9

What are the clinical features of Turner’s Syndrome?

Answer 9

Lymphoedema of hand and feet in neonate, which may persist
Shield chest and widely spaced nipples 
Short stature – cardinal feature
Neck webbing or thick neck
Low posterior hairline
Low-set ears
Wide carrying angle (cubitus valgus)
Cystic hygroma 
High arched palate
Short fourth metacarpal 
Multiple pigmental naevi

Question 10

What are the common associated comorbidities for Turner’s Syndrome?

Answer 10

CHD (particularly coarctation and bicuspid aortic valve)
Renal (single horse-shoe shaped kidney)
Hypothyroidism
Ovarian dysgenesis with infertility - primary amenorrhoea
Normal intellectual function in most cases.

Question 11

What is Fragile X syndrome?

Answer 11

Expansion of the CGG triplet repeat on the FMR1 gene on the X chromosome causing silencing of this gene which is required for normal development.

Question 12

What are the associated clinical features of fragile X?

Answer 12

Learning disabilities 
Macrocephaly 
Long face 
Long ears 
Macro-orchidism

Question 13

What is DiGeorge Syndrome?

Answer 13

22q11.2 deletion
Severe form of chromosome 22q11.2 deletion syndrome
Results in failure to develop 3rd and 4th pharyngeal pouches

Question 14

What are the clinical features of someone with DiGeorge syndrome?

Answer 14

CATCH-22
Congenital heart disease (interrupted aortic arch, truncus arteriosus and TOF) 
Abnormal facies
Thymus hypoplasia 
Cleft palate 
Hypo parathyroid/Hypocalcaemia

Question 15

What are the features of Noonan syndrome?

Answer 15

Male version of Turner’s as a result of a gene defect on chromosome 12. Has very similar features to Turner’s but also includes pulmonary valve stenosis, ptosis, triangular face, low set ears and coagulation problems (factor XI deficiency). 
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 16

What are the features of Pierre-Robin syndrome?

Answer 16

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

Not a syndrome, but a sequence – collection of features where one happens because of one that came before. Cleft palate in 50% due to Tongue preventing palate fusing or tongue preventing palate staying fused.

Question 17

What are the features of prader-willi syndrome?

Answer 17

Hypotonia
Hypogonadism
Obesity

Question 18

What are the features of william’s syndrome?

Answer 18

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

Question 19

What are the features of Cri du chat syndrome

Answer 19

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

Question 20

What are the features of Treacher Collins syndrome?

Answer 20

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

(Very similar to Pierre Robinson syndrome)
Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems

Question 21

What causes Down’s syndrome?

Answer 21

Majority of cases of Down’s syndrome occur as a result of non-disjunction in the mother. A handful can be as a result of translocations and some cases are mosaic. Diagnosis made via karyotyping, but screening can occur during pregnancy to determine risk.

Question 22

What conditions and abnormalities is Down’s syndrome associated with?

Answer 22

Congenital cardiac disease especially AVSD, VSD and patent ductus 
Hirschsprung’s 
Duodenal atresia 
Hypothyroidism 
Hearing loss 
Early onset Alzheimer’s

Question 23

What is duchenne’s muscular dystrophy?

Answer 23

X-linked mutation in the dystrophin gene. This results in near total loss of dystrophin which is important for holding muscle together and so slowly muscle is replaced by fibrous and adipose tissue.

Question 24

How does DMD present?

Answer 24

Boys aged 1-6
Waddling and clumsy gait
Gower’s manoeuvre (on standing uses hands to climb up his legs)
Carriers sometimes have manifestations

Question 25

How should suspected DMD be investigated?

Answer 25

Measure creatine kinase in all boys not walking by 1.5 years
Muscle biopsy

Question 26

How is DMD managed?

Answer 26

Wheelchair will be needed by age 9-12 but aim to preserve walking as long as possible
Prednisolone slows decline
Genetic treatment may be available in the future
Mechanical ventilation prolongs life span