ORPHA:93284
Spondyloepiphyseal dysplasia tarda
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Typical age of onset
- Adolescent, Adult, Childhood
- Estimated prevalence
- 1-9 / 1 000 000 (Worldwide)
- Rarity class
- 1-9 / 1 000 000
ORPHA:93284 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Platyspondyly
- Failure to thrive
- Barrel-shaped chest
- Multiple epiphyseal dysplasia
- Enlarged metaphyses
- Premature osteoarthritis