Williams Syndrome

Question 1

What causes William’s Syndrome?

Answer 1

Microdeletion of 7q11.23 (hemizygous)

Deletion of ELN gene- structural protein elastin

Question 2

What is the sex distribution for Williams syndrome?

Answer 2

M=F

Question 3

Name 7 facial features of Williams Syndrome

Answer 3

1. Periorbital fullness
2. Short nose w bulbous nasal tip
3. Long philtrum
4. Wide mouth
5. Full lips
6. Mild micrognathia
7. Stellate iris if blue or green eyes
   “Elfin facies”

Question 4

Name 3 cardiac complications associated with William’s syndrome

Answer 4

1. Supravalvular aortic stenosis (80% progressive and may need surgery)
2. Peripheral pulmonary artery stenosis (improves)
3. Coarctation of the aorta
   Due to elastin deficiency any artery can become narrowed

Question 5

Name 4 cognitive features of William’s Syndrome

Answer 5

1. Intellectual disability (75%)
2. Language delay (some have good language however)
3. Weakness in visuospatial cognition
4. Overly friendly

Question 6

Name 1 renal feature unique to infants w Williams syndrome

Answer 6

Hypercalcemia, resolves in childhood (15%) can cause renal stones

Question 7

What is the typical growth pattern seen in Williams syndrome?

Answer 7

Can have prenatal growth deficiency (SGA), can have FTT but post-natal growth rate is about 75% of normal.

Question 8

Name three GI features that are associated w Williams Syndrome

Answer 8

Any of:

1. Bowel/bladder diverticula
2. GER
3. Hernias
4. Rectal prolapse
5. Constipation

Question 9

Name 4 classic ENT features with William’s Syndrome

Answer 9

1. Chronic otitis media
2. Hypodontia
3. Malocclusion
4. Hypersensitivity to sound

Question 10

Name 3 MSK features of William’s

Answer 10

1. Joint laxity
2. Joint contractures
3. Kyphosis or lordosis

Question 11

Name 2 eye features of Williams

Answer 11

Any of:

1. Stellate iris
2. Hyperopia
3. Strabismus

Question 12

Name 2 common behavioural/mental health conditions in children with Williams Syndrome

Answer 12

1. ADHD (70%)

2. GAD (80%)

Question 13

Name 2 Endocrine features of children with William’s syndrome

Answer 13

1. Hypothyroidism
2. Premature grey hair (90%)
3. Obesity
4. Early puberty (50%)

Question 14

How do you test for William’s syndrome?

Answer 14

FISH for genetic confirmation

Question 15

How often should children with William’s syndrome be seen by cardiology? What screening investigations need to happen and how often should they be done?

Answer 15

1. Echo and annual cardiology evaluation from age 1-5 yo–> if normal than repeat at puberty for arterial stenosis/HTN
2. BP (Both arms) annually

Question 16

How often should hearing and vision screens be done?

Answer 16

Annually.

Question 17

How often should renal and bladder US be done?

Answer 17

Initial at birth, and then repeat at puberty

Question 18

What blood tests should be done and how often?

Answer 18

1. Ca- baseline, and if elevated measure annually. If normal, every 2-3 years, and then only if symptomatic in adolescents.
2. TSH every 4 yrs if no sx
3. Cr, UA and Ca/Cr ratio every 2 years.

Question 19

Name 2 special considerations in children with William’s syndrome

Answer 19

1. Do NOT give a multivitamin due to the potential deleterious effects of vitamin D
2. Peds anesthesia consult before any procedure dt several reports of unexpected deaths w sedation.