Crouzon syndrome

{
  "id": "MLC-T-CHM-002736",
  "term": "Crouzon syndrome",
  "field": "Chemistry",
  "definition": "A genetic disorder characterized by premature fusion of the skull bones (craniosynostosis), leading to an abnormal head shape and facial features. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant pattern. Individuals with Crouzon syndrome often exhibit exophthalmia, hypertelorism, and midfacial hypoplasia, requiring surgical intervention to correct skull deformities.",
  "synonyms": [
    "branchial arch syndrome"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "branchial arch",
    "craniosynostosis",
    "exophthalmia",
    "hypoplasia"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 741 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/crouzon-syndrome/"
}