spondyloepimetaphyseal dysplasia, Genevieve type
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.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
SEMD Genevieve type
related
SEMD, Geneviève type
exact
SEMDG
exact
spondyloepimetaphyseal dysplasia Genevieve type
related
spondyloepimetaphyseal dysplasia, Camera-Genevieve type
exact
spondyloepimetaphyseal dysplasia, Genevieve type
exact