Synonyms: Spondyloepimetaphyseal dysplasia, Menger type | Spondyloepimetaphyseal dysplasia, anauxetic type
A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally joint hypermobility dental abnormalities dysmorphic facial features (including hypertelorism midface hypoplasia macroglossia and prognathism) and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord kyphoscoliosis hip dislocation or rocker-bottom feet). Mild intellectual disability may also be present.
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 October 2023.
Newly diagnosed with
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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.
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