Anauxetic dysplasia

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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 June 2024

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Clinical Trials

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