spondyloepiphysial dysplasia

spon·dy·lo·ep·i·phys·i·al dys·pla·si·a

a group of conditions characterized by growth deficiency of the vertebral column with flattening of the vertebrae or platyspondyly, lack of ossification of the epiphyses, short-trunk dwarfism with limb shortening, and sometimes with other malformations; autosomal dominant [MIM*183900 and MIM*184100], autosomal recessive [MIM*208230 and MIM*271600], and X-linked recessive [MIM*313400] inheritance have been described.

spon·dy·lo·ep·i·phys·i·al dys·pla·si·a

(spon'di-lō-ep'i-fiz'ē-ăl dis-plā'zē-ă) A group of conditions characterized by growth deficiency of the vertebral column with flattening of the vertebrae or platyspondyly, lack of ossification of the epiphyses, short-trunk dwarfism with limb shortening, and sometimes other malformations; autosomal dominant, autosomal recessive, and X-linked recessive inheritance have been described.