ORPHA:166100
Autosomal dominant otospondylomegaepiphyseal dysplasia
Also called AD OSMED, Stickler syndrome type 3, Stickler syndrome, non-ocular type
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:166100 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Cleft palate
- Malar flattening
- Long philtrum
- Sensorineural hearing impairment
- Arthralgia
- Glossoptosis