Spondyloepimetaphyseal dysplasia Genevieve type
Alternate names
SEMD Genevieve type
Definition
Spondyloepimetaphyseal dysplasia, Geneviève type is 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.
NIH genetic and rare disease info
Spondyloepimetaphyseal dysplasia Genevieve type is a rare disease.
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