Williams Syndrome

Literature Review Williams Syndrome Laura Randazzo Sabnani

Seen in 1/7500 births, present at birth, occurs in all ethnicities and effects males and females equally.
- Small upturned nose, long philtrum, wide mouth, full lips, small chin, puffiness around the eyes. Blue and green eyed children have a starburst ( a white lacy pattern on the iris)
- Most have heart or blood vessel problems such as narrowing of the aorta or pulmonary arteries, which can range from trival or severe, and cause an increased risk for high blood pressure.
- Young children can have elevated levels of blood calcium causing extreme irritability or colic-like symptoms
- Most children have low-birth weight and slow weight gain
- Feeding problems due to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. May resolve as the children get older.
- Slightly small, widely spaced teeth are common. They also may have a variety of abnormalities of occlusion, tooth shape or appearance.
- Increased incidence of problems with kidney structure and/or function
- Inguinal (groin) and umbilical hernias are more common
- More sensitive hearing than other children; Certain frequencies or noise levels can be painful an/or startling, often this improves with age. (patient may be sensitive to the sound of the high speed) Young children often have low muscle tone and joint laxity. Joint stiffness may develop as children get older
- These children tend to have an excessively social personality. They are typically unafraid of strangers, extremely polite and show a greater interest in contact with adults than with their peers.
- Some degree of intellectual handicap. Young children with often experience developmental delays; milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Strengths and weaknesses are often seen in older children and adults. There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) are significantly deficient.
- Anesthesia concerns are the patient's cardiovascular system, kidney function, airway anatomy, metabolic status, joint mobility and level of cognitive functioning. “a cardiologic evaluation within the 12 months preceding surgery is desirable and records from the cardiologist should be requested for the anesthesiologists review. Copies of EKG'S, echocardiograms, chest x-rays (if available) and cardiac catheterizations (if appropriate) should be provided. The airway problems in WS concern the potential difficulty in placing an endotracheal tube for general anesthesia in the WS individual with an underdeveloped lower jaw. Dental problems, including brittle or loose teeth can compound this difficulty. These features are best noted when the anesthesiologist performs a brief, specific physical exam during the preoperative visit.”
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