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Ophthalmomandibulomelic dysplasia

Disease definition

Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.

ORPHA:2741

Classification level: Disorder
  • Synonym(s):
    • OMM syndrome
    • Pillay syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: No data available
  • ICD-10: Q87.8
  • OMIM: 164900
  • UMLS: C1833872
  • MeSH: -
  • GARD: 4089  4365
  • MedDRA: -
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