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Microphthalmia with linear skin defects syndrome

Disease definition

A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.


Classification level: Disorder
  • Synonym(s):
    • MCOPS7
    • MIDAS syndrome
    • MLS syndrome
    • Microphthalmia-dermal aplasia-sclerocornea syndrome
    • Syndromic microphthalmia type 7
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal
  • ICD-10: Q11.2
  • OMIM: 300887  300952  309801
  • UMLS: C0796070
  • MeSH: -
  • GARD: 3659
  • MedDRA: -

Detailed information


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