ORPHA:137678
Spondyloepiphyseal dysplasia with metatarsal shortening
Also called Czech dysplasia, metatarsal type, SED with metatarsal shortening
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Adolescent, Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:137678 is classified under "Bone diseases" in the Orphanet nomenclature.