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Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

Disease definition

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelases, anterverted nares, abnormal dentition and capillary hemangioma.

ORPHA:357158

Classification level: Disorder
  • Synonym(s):
    • Macroblepharon-ectropion-hypertelorism-macrostomia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 602562
  • UMLS: C1865181
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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