Disease at a Glance

Summary
Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, Spondyloepiphyseal dysplasia congenita (which is present from bith) and Spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence). Spondyloepiphyseal dysplasia is caused by genetic changes in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. Most cases are due to a new (de novo) genetic change, although it can be passed down through families.
Estimated Number of People with this Disease

This section is currently in development.

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
Categories
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).

Symptoms

This section is currently in development. We recommend speaking with a doctor to learn more about this disease. 

Causes

This section is currently in development. 

Last Updated: Nov. 8, 2021