ORPHA:1865
Dyssegmental dysplasia, Silverman-Handmaker type
- 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:1865 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Short neck
- Narrow chest
- Limitation of joint mobility
- Talipes equinovarus
- Anisospondyly
- Bowing of the legs