X-linked spondyloepimetaphyseal dysplasia
A rare genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs leg bowing lumbar lordosis brachydactyly joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies kyphotic angulation and very short long bones with dysplastic epiphyses and flarred irregular cupped metaphyses.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
X-linked spondyloepimetaphyseal dysplasia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
For a list of clinical trials in this disease area, please click here.