Orphanet: Colobomatous macrophthalmia microcornea syndrome
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Colobomatous macrophthalmia-microcornea syndrome

Disease definition

A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.

ORPHA:468672

Classification level: Disorder
  • Synonym(s):
    • MACOM syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Adolescent, Elderly
  • ICD-10: -
  • OMIM: 602499
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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