ORPHA:93346
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:93346 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Flared metaphysis
- Aplasia/hypoplasia involving bones of the extremities
- Glossoptosis
- Coarse facial features
- Hypertelorism
- Micrognathia