Williams syndrome: Features, causes, and treatment

Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high levels of calcium in the blood and urine, and a markedly outgoing personality.

People with Williams syndrome (WS) often an unusual “elfin” appearance, with a low nasal bridge. Unique personality traits include a high level of sociability and very good communication skills.

The high level of verbal skills may mask other developmental problems and sometimes contribute towards a late diagnosis.

Challenges faced by a person with WS include difficulty understanding spatial relations, abstract reasoning, and numbers, and some potentially life-threatening complications, such as Cardiovascular problems and a high level of calcium in the blood.

Williams syndrome (WS or WMS), or Williams-Beuren syndrome (WBS), happens because approximately 26 genes are deleted from chromosome 7.

According to the National Organization for Rare Disease (NORD), WS is present in between 10,000 and 20,000 infants born in the United States.

People with the condition often need ongoing care.

Features

[people with williams syndrome have good communication skills]
People with Williams syndrome tend to have good social and communication skills.

A number of features are associated with WS, but not everyone with the condition will have all of these features.

Facial characteristics include a small, upturned nose, long upper lip length, wide mouth, small chin, puffiness around the eyes, and full lips. A white, lacy pattern may develop around the iris. Adults may have a long face and neck.

Heart and blood vessel problems can mean a narrowing of the blood vessels, including the aorta or the pulmonary arteries. Surgery may be necessary.

Hypertension, or high blood pressure, may eventually become a problem. The patient will require regular monitoring.

Hypercalcemia, or high blood calcium levels can lead to colic-like symptoms and irritability in infants.

Signs and symptoms normally ease as the child gets older, but there may be lifelong problems with calcium levels and vitamin D metabolism, and medications or a special diet may be necessary.

Day-night sleeping patterns may take longer to acquire.

Connective tissue abnormalities increase the risk of a hernia, and joint problems, a soft, lax skin, and a hoarse voice.

Musculoskeletal problems may affect the bones and muscles. Joints may be lax, and there may be low muscle tone early in life. Contractures, or joint stiffness, may develop.

Physical therapy can help to improve muscle tone, joint range of motion, and strength.

Feeding problems may include a severe gag reflex, poor muscle tone, difficulty with sucking and swallowing, and tactile defensiveness. These problems tend to lessen with time.

Low birth weight may lead to a diagnosis of “failure to thrive.” A physician may be concerned that the infant does not gain weight fast enough. In most adults with WS, stature is smaller than average.

Cognitive and developmental features may involve mild to severe learning disabilities and cognitive challenges. There may be difficulties with spatial relations and fine motor skills. Developmental delays are common, and it often takes longer than normal to learn to walk upright, talk, or become toilet trained.

Kidney problems are slightly more common in people with WS.

Teeth may have an unusual appearance, being wide, slightly small, with wider spacing than normal. There may be abnormalities of occlusion, or the aligning the upper and lower teeth, for example, when chewing or biting.

Speech, social, and music skills

Speech, social skills, and long-term memory are usually well developed

[Many people with WS love music]
Many people with WS love music and have a keen sense of hearing.

Personality traits include a high level of expressive language skill and a keenness to communicate, especially with adults. Most children with WS are not fearful of strangers.

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