Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:90654

Stickler syndrome type 2

Body system
Bone diseases
Inheritance pattern
Autosomal dominant
Typical age of onset
Childhood, Infancy, Neonatal
Estimated prevalence
Not documented in Orphadata
Rarity class
Not documented in Orphadata

ORPHA:90654 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Sensorineural hearing impairment
  • Cataract
  • Retinal detachment
  • Myopia
  • Abnormal vitreous humor morphology
  • Corneal opacity