Get access

The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment


  • Colleen A. Morris

    Corresponding author
    • 2040 W. Charleston Blvd. Ste. 401, Las Vegas, NV 89102.
    Search for more papers by this author
    • Chief of the Genetics Division of the Department of Pediatrics at the University of Nevada School of Medicine. She conducts studies of genotype–phenotype correlation in WS.

  • How to cite this article: Morris CA. 2010. The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment. Am J Med Genet Part C Semin Med Genet 154C:427–431.


Williams syndrome (WS), caused by hemizygous deletion of 1.55–1.8 Mb of chromosome 7q11.23, has a recognizable behavior phenotype that is an important diagnostic sign. Individuals with WS are overly friendly, gregarious, empathetic, and loquacious, but have difficulty interpreting social cues and in making and keeping friends. The neurodevelopmental profile is characterized by overall intellectual disability, strength in concrete language, weakness in visuospatial construction, difficulties with sensory modulation, balance, and tool use, and problems with attention and anxiety. Structural and functional MRI studies demonstrate that gray matter deficiency in the intraparietal sulcus alters processing of spatial information in the dorsal stream (spatial) visual pathway, likely contributing to the visuospatial construction disability. Deficient regulation of the amygdala by the oribitofrontal cortex appears to underlie both the social disinhibition and the specific phobia common in WS. Continued study of cognition, behavior, neuroanatomy, and function in WS will continue to elucidate the neurogenetic underpinnings of human behavior. © 2010 Wiley-Liss, Inc.

Get access to the full text of this article