Treacher Collins syndrome

{
  "id": "MLC-T-CHM-012276",
  "term": "Treacher Collins syndrome",
  "field": "Chemistry",
  "definition": "A rare genetic disorder characterized by craniofacial deformities, primarily affecting the development of bones and tissues of the face. Individuals with this syndrome often have underdeveloped cheekbones, a small jaw, malformed ears, and downward-sloping eyes. It is an autosomal dominant condition caused by mutations in the TCOF1, POLR1C, or POLR1D genes.",
  "synonyms": [
    "mandibulofacial dysostosis",
    "Treacher Collins-Franceschetti syndrome"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "autosome",
    "congenital",
    "craniofacial"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 814 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/treacher-collins-syndrome/"
}