ORPHA:90653
Stickler syndrome type 1
- 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:90653 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Hypoplasia of the maxilla
- Long philtrum
- Cataract
- Retinal detachment
- Myopia
- Skeletal dysplasia