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 https://doi.org/10.1542/peds.2019-3761 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.
