Spondyloepimetaphyseal dysplasia, Genevieve type
Spondyloepimetaphyseal dysplasia, Genevieve type
Definition
A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
Also known as SEMD, Geneviève type, SEMDG, spondyloepimetaphyseal dysplasia, Camera-Genevieve type, spondyloepimetaphyseal dysplasia, Genevieve type — per MONDO