" /> Spondyloenchondrodysplasia - CISMeF





Preferred Label : Spondyloenchondrodysplasia;

Obsolete resource : true;

Moved to : 607944;

Alternative titles and symbols : Spencd; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondromatosis; Sem;

Description : Spondyloenchondrodysplasia is a rare skeletal dysplasia involving vertebral dysplasia and enchondroma-like lesions in the pelvis and long bones. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Also see spondyloenchondrodysplasia with immune dysregulation (SPENCDI; 607944), which is caused by mutation in the ACP5 gene (174610). It has been suggested by some that the various clinical manifestations observed in association with SPENCD may be pleiotropic manifestations of a single nosologic entity defined by the presence of typical spondylar and metaphyseal changes (see Renella et al., 2006).;

Inheritance : Autosomal recessive;

Prefixed ID : 271550;

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26/05/2025


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