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X-linked mandibulofacial dysostosis

Disease definition

X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.

ORPHA:1131

Classification level: Disorder
  • Synonym(s):
    • Mandibulofacial dysostosis, Toriello type
    • X-linked branchial arch syndrome
    • X-linked mandibulofacial dysostosis with limb anomalies
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q75.4
  • OMIM: 301950
  • UMLS: C1844918
  • MeSH: -
  • GARD: 1002
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.