Spondyloepimetaphyseal dysplasia, Missouri type
Synonyms: SEMD type 2 | SEMD, Missouri type | Spondyloepimetaphyseal dysplasia type 2
Spondyloepimetaphyseal dysplasia Missouri type is characterized by moderate-to-severe metaphyseal changes mild epiphyseal involvement rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae coxa vara genu varum and pear-shaped vertebrae in childhood.
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 September 2023.
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Spondyloepimetaphyseal dysplasia, Missouri type?
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Advocacy Organizations
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.