- Narrowing of the aorta just above the valve is common.
- Other findings may include:
- Mitral valve insufficiency
- Narrowing of the renal artery
Unique facial appearance
These facial features include:
- Prominent lips with an open mouth
- A long philtrum (distance from the midline of upper lip margin to base of nose)
- Low nasal bridge (top of the nose between eyebrows is flattened) with an upturned tip
- Epicanthal folds (extra fold of skin over inner corner of eyes)
- Partial absence of teeth or defective tooth enamel possible
- Irregular star like pattern of the iris may be present
Connective tissue problems
- Joint laxity and limitation
- Soft, lax skin
- Low muscle tone and floppy joints can result in delayed motor milestones.
- This can lead to compensatory postures to get more stability.
- With age, may have tighter tone, stronger reflexes, tightening of heel cords and hamstrings.
- This can result in a stiff and awkward gait and curving of the spine by adolescence.
- Consider range of motion exercises to prevent or improve joint tightness.
- Inguinal/umbilical hernia
- Bowel/bladder diverticula
- Rectal prolapse
Hoarse or low pitched voice
- Vocal cord changes due to lack of elastin
Progressive sensorineural hearing loss
- mild to moderate high frequency hearing loss is common in adults
Vision / Eyes
- Farsightedness in 50% of individuals with WS
- Crossed eyes (strabismus) in 50% of individuals with WS
Intellectual disability (usually mild) occurs in 75% of individuals
- Specific cognitive profile: strengths in verbal short term memory and language
- Extreme challenges with visuospatial activities
Unique personality characteristics
- Generalized anxiety
- Attention deficit disorder
- Prenatal growth deficiency
- Failure to thrive in infancy
- Poor weight gain and linear growth in first four years
- Rate of linear growth 75% of normal in childhood
- Adults usually below 3rd % in height
- Hypercalcemia- too much calcium in the blood
- Hypercalciuria- too much urinary calcium is excreted