It is a rare neurodegenerative disorder which is characterized by an abnormal, distinctive facial appearance which may also have lower nasal bridge. The patient has abnormal cheerful outward behavior and can carry off well with the strangers. The patients have developmental delay which is coupled with strong language skills. The patient usually suffers from cardiovascular problems such as transient hypercalcaemia and supravalvular aortic stenosis.
Williams Syndrome is a rare condition caused by missing genes on chromosome number 7. It was first identified by Dr. J. C. P Williams. It is not necessary that parents can have a family history of this condition, it can also occur in a person without any family history. But the parent has 50 percent chances of passing this condition to its offspring. It occurs in 1 in 8,000 births. Out of the 25 missing genes, one gene produces elastin which is a protein which allows the blood vessels and the other tissues in the body to stretch. Thus absence of one copy of the gene results in narrowing of the blood vessels.
- There is presence of delayed speech which is improved into strong speaking ability and improved learning by hearing.
- There can be developmental delay in the normal physiological functions.
- The patient is usually neglected by the society and hence can develop attention deficit disorder.
- There may be problems in feeding the patient like abdominal colic or there may be reflux and vomiting is followed.
- There may be presence of inward bending of the little finger which is called clinodactyly.
- There may be learning disorders due to delayed development.
- Due to delay in development there is mild or moderate mental retardation
- The patients of Williams syndrome pertain traits like friendly behavior, trusting strangers, fearing loud noise or physical contact and have interest in music.
- If compared with the rest of family, the patient is short in stature.
- The patient shows signs of chest compression called pectus excavatum.
- The appearance of face is abnormal showing flattened nasal bridge with upturned nose, long ridges on skin, the lips are prominent with opened mouth and skin covers the inner corner of eye, teeth are missing or they are abnormally widely spaced.
The symptoms are present due to abnormalities in the cerebellum and the right parietal cortex, and left front cortical region. It is also observed that amygdala of the person is having volume more than the average person’s amygdala thus amygdala being a area for fear, the patient of Williams Syndrome can talk to anyone including strangers.
As such there is no cure for Williams Syndrome, but there are suggestions of prescribing extra vitamin D and calcium, and treating high levels of calcium in the blood if present. The narrowing of blood vessel is treated on the individual basis. If joint stiffness is present, physiotherapy is the best treatment. Children unable to speak properly are given speech therapy.
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