Marfan syndrome

{
  "id": "MLC-T-CHM-006957",
  "term": "Marfan syndrome",
  "field": "Chemistry",
  "definition": "A genetic disorder affecting connective tissue, caused by a mutation in the FBN1 gene, which encodes fibrillin-1. This condition leads to abnormalities in the skeletal, ocular, and cardiovascular systems, including tall stature, long limbs, lens dislocation, and aortic dilation. Diagnosis is based on clinical criteria, often involving a family history and specific physical findings.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "congenital",
    "connective tissue"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 775 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/marfan-syndrome/"
}