ORPHA:1427
Autosomal recessive otospondylomegaepiphyseal dysplasia
Also called OSMED
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:1427 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Sensorineural hearing impairment
- Anteverted nares
- Abnormal joint morphology
- Abnormal vertebral morphology
- Disproportionate short stature
- Depressed nasal bridge