Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.

BACKGROUND: Schmid-type metaphyseal chondrodysplasia (Schmid MCD) is an autosomal dominant chondrodysplasia resulting from various mutations in the COL10A1 gene. This disorder has been well delineated at a clinical level and has been classified radiographically as a pure metaphyseal chondrodysplasia. A missense mutation in the COL10A1 gene has also been shown to cause a rare spondylo-metaphyseal chondrodysplasia (SMD) named the "Japanese" type which, apart from exhibiting a mild spinal phenotype, shares striking clinical and radiographic similarities to Schmid MCD. OBJECTIVE: The clinical, radiographic and molecular similarities between Schmid MCD and Japanese SMD led to the hypothesis that these conditions could be identical type X collagenopathies. MATERIALS AND METHODS: We analyzed 33 cases of typical Schmid MCD from the International Skeletal Dysplasia Registry, looking specifically for any radiographic evidence of spinal involvement. RESULTS: We found that in 9.1% (3/33) of cases reviewed there was definite radiographic evidence of spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity. CONCLUSION: These data indicate that spinal changes are an uncommon but variable component of Schmid MCD and that this condition and "Japanese" SMD are identical collagen type X disorders. Furthermore, the fact that the specific mutation reported in the family with Japanese type SMD, resulting in the substitution of a glutamic acid residue for a glycine at codon 595 (G595 E), has also been reported in a patient with Schmid MCD strongly supports this conclusion.