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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Anauxetic dysplasia?
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Advocacy Organizations
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.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.