Spondyloepimetaphyseal dysplasia Genevieve type

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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.

Rare and genetic diseases

Rare diseases - Spondyloepimetaphyseal dysplasia Genevieve type

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Spondyloepimetaphyseal dysplasia Genevieve type

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