Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high level of calcium in the blood and urine, and a markedly outgoing personality.
People with Williams syndrome (WS) often have 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.
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, 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
Teeth may have an unusual appearance: wide, somewhat small, with wider spacing than normal. There may be abnormalities of occlusion, or the aligning of 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
Personality traits include a high level of expressive language skills and a keenness to communicate, especially with adults. Most children with WS are not fearful of strangers.
Treatment
A special diet that is low in vitamin D may be recommended to reduce or limit calcium levels.
Children with WM are advised not to take vitamin D supplements, to avoid raising calcium levels.
An orthodontist can help with dental problems.
Treatment involves supportive intervention for developmental difficulties.
There may be:
- Special education and vocational training
- Speech and language, physical, occupational, feeding, and sensory integration therapy
- Behavioral counseling may follow psychological and psychiatric evaluation
- Medications are available if there is attention deficit disorder (ADD) and anxiety
