ORPHA:171866
Spondyloepimetaphyseal dysplasia, aggrecan type
Also called SEMD, aggrecan 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:171866 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Mandibular prognathia
- Posteriorly rotated ears
- Short neck
- Brachydactyly
- Joint hypermobility
- Barrel-shaped chest