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WILLIAMS
SYNDROME DIAGNOSTIC SCORE SHEET
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Date:
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Child’s Name:
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Child’s Date of
Birth:
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Address:
City, State, & Zip: Phone:
Physician’s Name, City, State: Phone:
Examiner’s Name: TOTAL SCORE (12 max):
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Ethnicity:
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Am. Indian/Alaskan Native
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Black
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White
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Asian/Pac. Islander
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Hispanic
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Unknown
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Gender:
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Female
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Male
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Other Ethnicity List:
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GROWTH (check box if there is past or present evidence of:) (2 points for 2 or more)
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Feeding difficulty
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Failure to thrive/Ht & Wt %
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Vomiting/GE reflux
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Prolonged colic/>4m irritability
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POINTS:
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Chronic constipation
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2 points max
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BEHAVIOR &
DEVELOPMENT (2 points for 3 or more)
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Overly friendly personality
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Hyperverbal speech
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Short attention span
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Good long-term memory
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Hyperacusis
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Motor delay
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POINTS:
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Anxiety
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Language delay
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2 points max
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Visuo-spatial problems
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FACIAL FEATURES (2
points for 6 or more)
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Bitemporal narrowing
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Periorbital fullness
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Epicanthal folds/flat nasal bridge
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Medial eyebrow flare
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Strabismus
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Stellate iris pattern
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Short nose/anteverted nares
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Bulbous/full nasal tip
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POINTS:
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Full cheeks
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Malar hypoplasia
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2 points max
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Long philtrum
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Prominent lips
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Small, widely-spaced teeth
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Malocclusion
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CARDIOVASCULAR DEFECTS (maximum
of 2 points)
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Supravalvular aortic stenosis
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(2 points)
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Supravalvular pulmonic stenosis
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(2 points)
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Peripheral pulmonic stenosis
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(1 point)
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Other cardiac defects
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(1 point)
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POINTS:
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Other vascular stenoses
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(1 point)
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2 points max
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Hypertension
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(1 point)
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OTHER (2
points for 4 or more)
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Hoarse voice
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Long neck/sloped shoulders
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Long trunk
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Joint limitation
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Hypereflexia
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Abnormal gait
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POINTS:
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Inguinal hernia
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Rectal prolapse
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2 points max
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Bowel or bladder diverticuli
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HYPERCALCEMIA
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(2 points for either)
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POINTS:
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HYPERCALCIURIA
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2 points max
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SUPPORTIVE FEATURES (no
points)
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Elastin gene
deletion
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Frequent urination/delayed urinary continence
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Premature graying
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Strong attraction to music/perfect pitch
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Hallux valgus
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Early puberty
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Sacral crease
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Prominent veins/muscles
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Soft/velvety skin
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Preoccupation with spinning/rhythmic movements
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Referral to geneticist recommended: TOTAL SCORE
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Score = 6, for children < 24
months; Score = 8,
for children = 2 years 12
points max.