National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Spondyloepiphyseal dysplasia


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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).[1][2] Spondyloepiphyseal dysplasia is caused by mutations 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) mutation, although it can be passed down through families. Treatment is aimed at managing the symptoms and associated complications as they arise.[1]
Last updated: 4/21/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Ovoid vertebral bodies 0003300
Platyspondyly
Flattened vertebrae
0000926
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short thorax
Shorter than typical length between neck and abdomen
0010306
Skeletal dysplasia 0002652
30%-79% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Coxa vara 0002812
Hyperlordosis
Prominent swayback
0003307
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Osteoarthritis
Degenerative joint disease
0002758
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Last updated: 7/1/2020

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Spondyloepiphyseal dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Spondyloepiphyseal dysplasia:
    International Skeletal Dysplasia Registry (ISDR)
     

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • Medscape Reference has information on spondyloepiphyseal dysplasia in general. You may need to register to view this medical reference, but registration is free.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. A to Z: Spondyloepiphyseal Dysplasia (SED). Kids Health from Nemours. 2016; http://kidshealth.org/en/parents/az-sed.html.
  2. Parikh S. Spondyloepiphyseal Dysplasia. Medscape Reference. November 2, 2015; http://emedicine.medscape.com/article/1260836-overview.