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GTR Home > Conditions/Phenotypes > Spondylo-megaepiphyseal-metaphyseal dysplasia

Spondylo-megaepiphyseal-metaphyseal dysplasia

Summary

Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009). [from OMIM]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAPX1, NKX3.2, NKX3B, SMMD, NKX3-2
    Summary: NK3 homeobox 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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