Williams Syndrome Flashcards
What causes William’s Syndrome?
Microdeletion of 7q11.23 (hemizygous)
Deletion of ELN gene- structural protein elastin
What is the sex distribution for Williams syndrome?
M=F
Name 7 facial features of Williams Syndrome
- Periorbital fullness
- Short nose w bulbous nasal tip
- Long philtrum
- Wide mouth
- Full lips
- Mild micrognathia
- Stellate iris if blue or green eyes
“Elfin facies”
Name 3 cardiac complications associated with William’s syndrome
- Supravalvular aortic stenosis (80% progressive and may need surgery)
- Peripheral pulmonary artery stenosis (improves)
- Coarctation of the aorta
Due to elastin deficiency any artery can become narrowed
Name 4 cognitive features of William’s Syndrome
- Intellectual disability (75%)
- Language delay (some have good language however)
- Weakness in visuospatial cognition
- Overly friendly
Name 1 renal feature unique to infants w Williams syndrome
Hypercalcemia, resolves in childhood (15%) can cause renal stones
What is the typical growth pattern seen in Williams syndrome?
Can have prenatal growth deficiency (SGA), can have FTT but post-natal growth rate is about 75% of normal.
Name three GI features that are associated w Williams Syndrome
Any of:
- Bowel/bladder diverticula
- GER
- Hernias
- Rectal prolapse
- Constipation
Name 4 classic ENT features with William’s Syndrome
- Chronic otitis media
- Hypodontia
- Malocclusion
- Hypersensitivity to sound
Name 3 MSK features of William’s
- Joint laxity
- Joint contractures
- Kyphosis or lordosis
Name 2 eye features of Williams
Any of:
- Stellate iris
- Hyperopia
- Strabismus
Name 2 common behavioural/mental health conditions in children with Williams Syndrome
- ADHD (70%)
2. GAD (80%)
Name 2 Endocrine features of children with William’s syndrome
- Hypothyroidism
- Premature grey hair (90%)
- Obesity
- Early puberty (50%)
How do you test for William’s syndrome?
FISH for genetic confirmation
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?
- Echo and annual cardiology evaluation from age 1-5 yo–> if normal than repeat at puberty for arterial stenosis/HTN
- BP (Both arms) annually
How often should hearing and vision screens be done?
Annually.
How often should renal and bladder US be done?
Initial at birth, and then repeat at puberty
What blood tests should be done and how often?
- Ca- baseline, and if elevated measure annually. If normal, every 2-3 years, and then only if symptomatic in adolescents.
- TSH every 4 yrs if no sx
- Cr, UA and Ca/Cr ratio every 2 years.
Name 2 special considerations in children with William’s syndrome
- Do NOT give a multivitamin due to the potential deleterious effects of vitamin D
- Peds anesthesia consult before any procedure dt several reports of unexpected deaths w sedation.
