Rare Diseases Symptoms Automatic Extraction

Esotropia in Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems. The typical facies resembles the make-up worn in Japanese Kabuki theater. Although there are several clinical findings, the ocular findings affecting vision have been underreported. The current patient shows esotropia and previously unreported nummular corneal opacities.

Diseases presenting "malformation syndrome" symptom

  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • holt-oram syndrome
  • kabuki syndrome
  • kallmann syndrome
  • wolf-hirschhorn syndrome

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