ORPHA:93357
SPONASTRIME dysplasia
Also called Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia, Spondyloepimetaphyseal dysplasia, Sponastrime type
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:93357 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Abnormality of the vertebral column
- Platyspondyly
- Abnormal facial shape
- Depressed nasal bridge
- Disproportionate short-limb short stature
- Midface retrusion