Encyclopedia of Genetic Disorders | Spondyloepiphyseal dysplasia

Definition

Spondyloepiphyseal dysplasia is a rare hereditary disorder characterized by growth deficiency, spinal malformations, and, in some cases, ocular abnormalities.

Description

Spondyloepiphyseal dysplasia is one of the most common causes of short stature. There are two forms of spondyloepiphyseal dysplasia. Both forms are inherited and both forms are rare.

Congenital spondyloepiphyseal dysplasia

Congenital spondyloepiphyseal dysplasia is primarily characterized by prenatal growth deficiency and spinal malformations. Growth deficiency results in short stature (dwarfism). Abnormalities of the eyes may be present, including...