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).;