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Clinical report updates guidance on treating Williams syndrome :

January 21, 2020

Recommendations in a new AAP clinical report can help pediatricians identify and treat children with the neurodevelopmental disorder Williams syndrome. The guidance is based on a review of the literature and expert consensus since publication of the previous report in 2001.

Williams syndrome, or Williams-Beuren syndrome, is a multisystem genetic disorder resulting from a deletion of a portion of chromosome 7.

Affecting about one in 7,500 individuals, boys and girls equally, the syndrome is characterized by dysmorphic facies, cardiovascular disease (commonly supravalvular aortic stenosis), intellectual disability, a characteristic cognitive profile and idiopathic hypercalcemia. Distinctive characteristics include inguinal hernia, bladder and bowel diverticula, orthopedic problems and hoarse voice. Patients may have a broad forehead, bitemporal narrowness, periorbital fullness, stellate/lacy iris pattern, short nose with bulbous nasal tip, wide mouth, full lips and mild micrognathia.

Common behavioral factors are anxiety, overfriendliness, hypersensitivity to sound and attention-deficit/hyperactivity disorder.

The clinical report Health Care Supervision for Children With Williams Syndrome, from the Council on Genetics, is available at and will be published in the February issue of Pediatrics. Its lead author, Colleen A. Morris, M.D., a clinical geneticist, was part of the team that helped to identify the syndrome’s genetic components.

The report addresses the care of children in a range of areas: cardiovascular; gastrointestinal; genitourinary; ocular and auditory; endocrine; and neurology, development, cognition and behavior. Hypercalcemia also is discussed. A medical home for patients is recommended, with an emphasis on continuity of care and the role of the family as partners.

Most cases of Williams syndrome are detected through a chromosomal microarray that is done for developmental disability.

The authors suggest patients undergo a medical genetics evaluation to enable discussion with parents and other family members concerning the clinical manifestations, natural history and recurrence risks of the disorder.

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