What is Williams Syndrome
Williams syndrome is a rare and genetic disorder that is responsible for neurodevelopmental abnormalities and distinct facial features like an elf.
Elastin is a protein that enables the blood vessels in the body as well as other tissues to stretch. Some of the genes that are responsible for the production of elastin are missing in individuals with Williams syndrome. This may result in the narrowing of the blood vessels, as seen in people with the disorder.
Williams syndrome Symptoms
Some of the symptoms of Williams syndrome are as follows:
- The individual is often shorter in height in comparison to the rest of the family
- Speech developmental delays which may later covert into better and stronger abilities to speak, as well as stronger learning capabilities due to hearing.
- Easy distractibility and inattentiveness including other disorders like attention deficit disorder
- The small finger may bend inwards.
- Developmental delays
- Feeding difficulties that may include vomiting, reflux and colic
- Learning disabilities
- Intellectual deficits leading to mild or moderate mental retardation
- The chest is sunken
- Individuals with Williams syndrome have distinct personality traits which include a friendly predisposition and nature, trust in strangers, phobia of any physical contact or loud noise and appreciation and interest in music.
Facial features may include:
- An open mouth with striking lips
- Some of the teeth may be missing and are wide-set.
- The tooth enamel has defects or abnormalities
- The nasal bridge is flattened and the nose is small and upturned
- Epicanthal folds or the inner corners of the eyes are covered by skin
- The skin has long ridges running from the nose to the upper lip
Williams Syndrome Causes
- The deletion of some genes from the long arm of the chromosome 7, results in the development of Williams syndrome
- Parents with Williams syndrome may pass it onto their children and hence the disorder is heritable
Williams Syndrome Treatment
Williams syndrome cannot be cured but its symptoms can be alleviated. Treatment includes:
- Avoidance of additional quantities of vitamin D and calcium
- Narrowing of the blood vessels are treated on an individual basis
- Increased levels of blood calcium requires immediate medical treatment
- Physical, speech and developmental therapies are used to correct the physical, verbal and developmental abnormalities seen in individuals with Williams syndrome.
Support groups for Williams syndrome
Williams Syndrome Foundation — www.wsf.org
Williams Syndrome Association — www.williams-syndrome.org
Williams Syndrome Pictures
Picture 1 : Williams Syndrome Facial features
Image source: © labanca.net
Picture 2 : Williams Syndrome Photo
Image source: © adinnerguest.com
Picture 3 : Williams Syndrome picture below showing low nasal bridge
Picture 4: Williams Syndrome Picture
Image source: © bmj.com