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.
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
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.
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.