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 May 2024
Newly diagnosed with
Spondyloepimetaphyseal dysplasia, Geneviève type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.