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