By Dr_Rob-Hicks Published 01/21/2016 16:21:00 | Views: 558

What is it?

Williams syndrome is a rare congenital abnormality and is caused by the deletion of the gene that makes the protein elastin, which is responsible for providing strength and elasticity to blood vessel walls, from chromosome 7.

This genetic abnormality leads to medical and developmental problems. Williams syndrome is not thought to be inherited since the chromosome abnormality occurs randomly and is unpredictable.

Diagnosis

An important part of diagnosing Williams syndrome is recognising the physical features that should arouse suspicion.

Elfin features

  • an upturned nose
  • widely spaced eyes
  • a wide mouth with full lips
  • a small chin
  • slightly puffy cheeks
  • irregular, widely spaced teeth

Early challenges

People suffering from Williams syndrome may have had a low birth weight, then difficulty feeding and gaining weight. It's usually clear there are developmental problems and children with Williams syndrome may not start talking until the age of three.

Most children with Williams syndrome may have some degree of learning disability and problems with coordination and balance. Their high energy levels mean they will talk excessively, often in an inappropriate adult manner and will be overactive, which makes sleep a real challenge.

Sensitivity

Children and adults with Williams syndrome are very sensitive and extremely polite. In particular, children tend not to fear strangers, show a great interest in contact with adults, and may have problems forming relationships with their peers.

They have very sensitive hearing, so they may be easily startled by loud noises.

Blood vessel narrowing

One of the first signs of Williams syndrome is some type of heart or blood vessel problem. Usually, this is because part of the aorta or the pulmonary arteries have narrowed and this causes a heart murmur.

Sometimes this narrowing is not severe and simply needs regular monitoring. At other times, it can be so severe that surgery is necessary. It's important that blood pressure is checked regularly because high blood pressure is more likely to develop when blood vessels are narrowed.

Blood calcium levels also need to be monitored since these may become high and lead to problems such as constipation.

Diagnosing Williams syndrome is straightforward once the suspicion has been raised. The condition is confirmed with a blood test, which identifies that part of chromosome 7 is missing.

Living with Williams syndrome

Most adults and children with Williams syndrome lead full, active, and healthy lives, but it's important to be aware of the possible problems that may arise and to address them as soon as possible. For this reason, an expert team is needed that includes doctors and nurses, as well as the skills of occupational speech therapists, physiotherapists and teachers.

 
 
 
 
By Dr_Rob-Hicks 01/21/2016 16:21:00
 
 

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