10 Williams Syndrome Symptoms

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By dr. mera
Article Sources Article Sources
  • 1. Lazier, J., MD. (2020, December 05). Williams Syndrome Clinical Presentation: History, Physical Examination. Retrieved December 16, 2020, from https://emedicine.medscape.com/article/893149-clinical
  • 2. Ko, Jung Min. (2015). Genetic Syndromes associated with Congenital Heart Disease. Korean circulation journal. 45. 357-61. 10.4070/kcj.2015.45.5.357.
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Williams syndrome is a genetic disorder that is present at birth. It is most often the result of a genetic mutation in the form of a deletion of a piece of a chromosome (number 7). Moreover, it is very rare, since it is estimated to occur in 1 per 7,500-20,000 births.1Lazier, J., MD. (2020, December 05). Williams Syndrome Clinical Presentation: History, Physical Examination. Retrieved December 16, 2020, from https://emedicine.medscape.com/article/893149-clinical

Williams syndrome is characterized by certain manifestations, including distinctive facial features, cardiovascular anomalies, elevated levels of calcium in the blood (hypercalcemia), developmental delays (cognitive, motor, and social), and specific behavioral patterns. Unfortunately, there is no cure for this syndrome. Given its complex clinical presentation, management usually requires a multidisciplinary approach that focuses on the patient’s individual symptoms.

1. Poor Feeding

Poor feeding refers to a child’s lack of interest in feeding or an inability to receive proper nutrition. It usually occurs in newborns and young infants, and it can be caused by a myriad of conditions. For instance, infections, metabolic diseases, genetic disorders, neurological conditions, etc. can cause feeding problems. Possible indicators of poor feeding include malnutrition, dehydration, and failure to thrive. In any case, a child with poor feeding should be closely monitored.

Poor feeding is a nonspecific symptom of Williams Syndrome. Infants with this condition tend to have generalized hypotonia or a decreased muscle tone all over the body. Hypotonia can impair the child’s ability to assume and control oral voluntary movements, which can partially explain poor feeding. For instance, children with Williams syndrome may have problems sucking, swallowing, and manipulating solid food. Additionally, children with this condition can present with gastrointestinal problems that can further impact hunger and motivation to feed. Ultimately, poor feeding in Williams syndrome can lead to a failure to increase weight and grow at the expected rate (failure to thrive). Similarly, developmental milestones can also be delayed (i.e. rolling over, sitting, speaking).

Williams Syndrome

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