Cri du chat syndrome

{
  "id": "MLC-T-CHM-002673",
  "term": "Cri du chat syndrome",
  "field": "Chemistry",
  "definition": "A rare genetic disorder caused by a deletion on the short arm of chromosome 5, characterized by a distinctive high-pitched cry resembling that of a cat in infancy. Individuals with this syndrome often exhibit intellectual disability, microcephaly, and distinctive facial features such as hypertelorism. The severity of symptoms varies depending on the size and location of the chromosomal deletion.",
  "synonyms": [
    "5p - syndrome",
    "Lejeune syndrome"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "congenital",
    "hypertelorism",
    "microcephaly",
    "syndrome"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 740 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/cri-du-chat-syndrome/"
}