Spondyloepiphyseal dysplasia, Kimberley type
Spondyloepiphyseal dysplasia, Kimberley type
Definition
A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy.
Also known as spondyloepiphyseal dysplasia, Kimberley type — per MONDO