Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Spondyloepimetaphyseal dysplasia · ACAN-related short stature spectrum
Spondyloepimetaphyseal dysplasia, aggrecan type
A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
This condition has no sub-types.