{
  "url": "https://dantelabs.com/traits/abnormal-midface-morphology",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "abnormal-midface-morphology",
    "id": "HP:0000309",
    "name": "Abnormality of the midface",
    "label": "Abnormal midface morphology",
    "definition": "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.",
    "synonyms": [
      "Deformity of the midface",
      "Malformation of the midface",
      "Abnormal morphology of the midface",
      "Anomaly of the midface"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-of-the-face",
        "name": "Abnormality of the face",
        "url": "https://dantelabs.com/traits/abnormality-of-the-face"
      }
    ],
    "narrower": [
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "genes": 310,
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "abnormal-cheek-morphology",
        "name": "Abnormality of the cheek",
        "genes": 7,
        "url": "https://dantelabs.com/traits/abnormal-cheek-morphology"
      },
      {
        "slug": "hyperplasia-of-midface",
        "name": "Big midface",
        "genes": 6,
        "url": "https://dantelabs.com/traits/hyperplasia-of-midface"
      },
      {
        "slug": "abnormal-zygomatic-bone-morphology",
        "name": "Abnormality of the cheekbone",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormal-zygomatic-bone-morphology"
      }
    ],
    "genes": [
      {
        "slug": "cdh11",
        "symbol": "CDH11",
        "hgnc": "HGNC:1750",
        "name": "cadherin 11",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh11"
      },
      {
        "slug": "smchd1",
        "symbol": "SMCHD1",
        "hgnc": "HGNC:29090",
        "name": "structural maintenance of chromosomes flexible hinge domain containing 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smchd1"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "ptrh2",
        "symbol": "PTRH2",
        "hgnc": "HGNC:24265",
        "name": "peptidyl-tRNA hydrolase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptrh2"
      }
    ]
  }
}