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WILLIAMS SYNDROME
ABSTRACT -
Williams Syndrome is a rare genetic disorder that affects children with issues in major organs like heart, kidney, blood vessels etc. Facial features with nose and mouth of the individual may also appear different. This disease cannot be cured but treatment can reduce the symptoms.
CAUSES -
- Missing genes
SIGNS AND SYMPTOMS –
- Facial disabilities like broad forehead, irregular eyes, short nose, etc
- Learning disability
- Problems in heart and blood vessels
- Growth complications like improper weight and height
- Joint and bone problems
- Ear, kidney and urinary tract infections
DIAGNOSIS –
- Physical examination
- FISH (Fluorescence In Situ Hybridization) blood test
- Family medical history
- Imaging tests like electrocardiogram and ultrasound
TREATMENT –
- Physical therapy
- Medications to lower down BP
- Low calcium and vitamin-D diet
- Language and speech therapy
- Surgery of heart or blood vessels if required
EPIDEMIOLOGY –
- Williams Syndrome is a rare disorder which can affect individuals and newborns equally irrespective of gender, race and ethnicity.
- As per the estimation, it affects around 1 in 10,000 people globally which are majorly irregular and periodic.
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