Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses, and metaphyseal dysplasia are noted. It is inherited as an autosomal recessive trait.
The diseases similar to spondylo-megaepiphyseal-metaphyseal dysplasia include spondylometaphyseal dysplasia (H00522), oto-spondylo-megaepiphyseal dysplasia (H00519), and cleidocranial dysplasia (H00521).
