Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepimetaphyseal dysplasia, aggrecan type
Definition
A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Also known as SEMD, aggrecan type, spondyloepimetaphyseal dysplasia, aggrecan type — per MONDO