Nobathembu mabeka biography of williams syndrome

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Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as , individuals.

Williams syndrome WS is characterized by developmental delay, intellectual disability usually mild , a specific cognitive profile, unique personality characteristics, cardiovascular disease supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension , connective tissue abnormalities, growth deficiency, endocrine abnormalities early puberty, hypercalcemia, hypercalciuria, hypothyroidism , and distinctive facies.

Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. Feeding difficulties often lead to poor weight gain in infancy. The diagnosis of WS is established by identification of a heterozygous 1. Treatment of manifestations: Infants with feeding issues may benefit from feeding therapy. Early intervention programs, special education programs, and vocational training address developmental disabilities; programs include speech-language, physical, occupational, feeding, and sensory integration therapies as well as hippotherapy; phonics methods are recommended to teach reading.

Williams syndrome (WS) (OMIM ) is a multisystem disorder caused by the deletion of 26 contiguous genes, including elastin (ELN) (OMIM ) on chromosome 7qMissing: nobathembu mabeka.

Anesthesia consultation and electrocardiogram is recommended prior to sedation and surgical procedures. Orthodontic referral should be considered for malocclusion. Constipation should be aggressively managed at all ages. Range of motion exercises are recommended to prevent or ameliorate joint contractures. Early puberty may be treated with a gonadotropin-releasing hormone agonist.

Treatment of hypertension, sleep disorders, ocular manifestations, recurrent otitis media, hearing loss, dental issues, hypothyroidism, and insulin resistance does not differ from that in the general population. Surveillance : Children younger than age two years should have serum calcium studies every four to six months.