{
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    "__licence": {
      "identifier": "CC-BY-4.0",
      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
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    "results": {
      "Date": "2026-06-23 07:53:50",
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      "DisorderFlag": [
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          "Reference": "13638",
          "Source": "GARD"
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          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": "Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet)",
          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
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          "Reference": "Q87.8",
          "Source": "ICD-10"
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          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0018821",
          "Source": "MONDO"
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "300968",
          "Source": "OMIM"
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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      "ORPHAcode": 480880,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880",
      "Preferred term": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability",
      "SummaryInformation": [
        {
          "Definition": "A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others."
        }
      ],
      "Synonym": [
        "X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"
      ],
      "Typology": "Malformation syndrome"
    }
  },
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    "lang": "en",
    "name": "Rare diseases and cross-referencing"
  },
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  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/480880?lang=en"
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