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