Williams syndrome

{
  "id": "MLC-T-CHM-012701",
  "term": "Williams syndrome",
  "field": "Chemistry",
  "definition": "A rare neurodevelopmental disorder caused by a microdeletion on chromosome 7, affecting multiple genes. It is characterized by a distinctive facial appearance (elfin facies), cardiovascular problems, a unique cognitive profile with strong verbal skills but impaired visuospatial abilities, and an overly friendly personality. This congenital condition has a prevalence of approximately 1 in 10,000 live births.",
  "synonyms": [
    "elfin facies syndrome"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "congenital",
    "facies"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 821 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/williams-syndrome/"
}