Williams syndrome

Alternative Names:

Williams-Beuren syndrome
Symptoms:

mild-to-moderate mental retardation
short stature relative to family
feeding problems including colic, reflux, vomitting (due to low muscle tone and poor gag reflex)
joint laxity which may progress to stiffness as patient gets older
developmental delay
initially delayed speech development may turn into relative loquacious speech later and relatively strong learning by hearing
distractibility
learning disorders, for example poor visual-spatial abilities
blood vessel narrowing including: supravalvular aortic stenosis, pulmonic stenosis, and pulmonary artery stenosis
pectus excavatum (sunken chest)
clinodactyly (an inward bend of the small finger)
personality traits include being overtly friendly, trusting strangers, fear of loud sounds or physical contact, and an affinity for music

Signs and tests:

prominent lips with an open mouth
flattened nasal bridge with small upturned nose
epicanthal folds
long philtrum (midline from upper lip margin to lower nose)
unusual pattern in iris ("stellate" or star-like)
partial absence of the teeth, defective tooth enamel, or small, widely-spaced teeth
heart failure (depending on degree of heart defect)
high blood calcium level, hypercalcemia, that may cause seizures and muscle rigidity
hypertension (depending on degree of blood vessel narrowing)
echocardiography with Doppler (may show blood vessel narrowing)
periodic blood pressure check
kidney ultrasound (some patients have renal defects)
blood test for chromosome deletion that is called a FISH test (genetic defect found in 99% of patients with Williams syndrome)
far sightedness