Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:828

Stickler syndrome

Also called Hereditary progressive arthroophthalmopathy

Body system
Bone diseases
Inheritance pattern
Autosomal dominant, Autosomal recessive
Typical age of onset
Antenatal, Childhood, Infancy, Neonatal
Estimated prevalence
1-9 / 100 000 (Europe)
Rarity class
1-9 / 100 000

ORPHA:828 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Malar flattening
  • Epicanthus
  • Microretrognathia
  • Hypoplasia of the maxilla
  • Long philtrum
  • Visual impairment