Spondyloenchondrodysplasia

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Spondyloenchondrodysplasia

Synonyms: SPENCD | Spondyloenchondromatosis | Spondylometaphyseal dysplasia with enchondromatous changes

Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature platyspondyly short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity mental retardation and cerebral calcifications) or autoimmune manifestations such as immune thrombocytopenic purpura systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

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 March 2024

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Clinical Trials

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