{
  "url": "https://dantelabs.com/traits/craniofacial-hyperostosis",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "craniofacial-hyperostosis",
    "id": "HP:0004493",
    "name": "Enlargement of craniofacial bones",
    "label": "Craniofacial hyperostosis",
    "definition": "Excessive growth of the craniofacial bones.",
    "synonyms": [
      "Excessive bone growth of the skull and face",
      "Excessive growth of craniofacial bones",
      "Overgrowth of craniofacial bones",
      "Thick craniofacial bones",
      "Hyperostosis of craniofacial bones",
      "Increased ossification of craniofacial bones"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      },
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-facial-skeleton-morphology",
        "name": "Abnormality of facial bones",
        "url": "https://dantelabs.com/traits/abnormal-facial-skeleton-morphology"
      },
      {
        "slug": "abnormality-of-the-face",
        "name": "Abnormality of the face",
        "url": "https://dantelabs.com/traits/abnormality-of-the-face"
      },
      {
        "slug": "cranial-hyperostosis",
        "name": "Enlargement of skull bones",
        "url": "https://dantelabs.com/traits/cranial-hyperostosis"
      }
    ],
    "narrower": [
      {
        "slug": "facial-hyperostosis",
        "name": "Enlargement of facial bones",
        "genes": 5,
        "url": "https://dantelabs.com/traits/facial-hyperostosis"
      }
    ],
    "genes": [
      {
        "slug": "sost",
        "symbol": "SOST",
        "hgnc": "HGNC:13771",
        "name": "sclerostin",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/sost"
      },
      {
        "slug": "ankh",
        "symbol": "ANKH",
        "hgnc": "HGNC:15492",
        "name": "ANKH inorganic pyrophosphate transport regulator",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankh"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "hgnc": "HGNC:4274",
        "name": "gap junction protein alpha 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja1"
      },
      {
        "slug": "lrp4",
        "symbol": "LRP4",
        "hgnc": "HGNC:6696",
        "name": "LDL receptor related protein 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp4"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "slug": "rps6ka3",
        "symbol": "RPS6KA3",
        "hgnc": "HGNC:10432",
        "name": "ribosomal protein S6 kinase A3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps6ka3"
      },
      {
        "slug": "slc29a3",
        "symbol": "SLC29A3",
        "hgnc": "HGNC:23096",
        "name": "solute carrier family 29 member 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc29a3"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "sp7",
        "symbol": "SP7",
        "hgnc": "HGNC:17321",
        "name": "Sp7 transcription factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sp7"
      },
      {
        "slug": "tbxas1",
        "symbol": "TBXAS1",
        "hgnc": "HGNC:11609",
        "name": "thromboxane A synthase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbxas1"
      },
      {
        "slug": "tcirg1",
        "symbol": "TCIRG1",
        "hgnc": "HGNC:11647",
        "name": "T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcirg1"
      },
      {
        "slug": "tnfrsf11a",
        "symbol": "TNFRSF11A",
        "hgnc": "HGNC:11908",
        "name": "TNF receptor superfamily member 11a",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf11a"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "ddb2",
        "symbol": "DDB2",
        "hgnc": "HGNC:2718",
        "name": "damage specific DNA binding protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddb2"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "hgnc": "HGNC:3437",
        "name": "ERCC excision repair 5, endonuclease",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc5"
      },
      {
        "slug": "xpa",
        "symbol": "XPA",
        "hgnc": "HGNC:12814",
        "name": "XPA, DNA damage recognition and repair factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpa"
      },
      {
        "slug": "xpc",
        "symbol": "XPC",
        "hgnc": "HGNC:12816",
        "name": "XPC complex subunit, DNA damage recognition and repair factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpc"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      }
    ]
  }
}