Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:250984

Autosomal recessive Stickler syndrome

Body system
Bone diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Childhood
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:250984 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Sensorineural hearing impairment
  • Epiphyseal dysplasia
  • High myopia
  • Flat face
  • Cataract
  • Myopia