Spondyloepimetaphyseal dysplasia, Geneviève type

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Spondyloepimetaphyseal dysplasia, Geneviève type

Synonyms: SEMD, Geneviève type | SEMDG

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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