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

Autosomal dominant spondyloepiphyseal dysplasia tarda

Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees.[1] Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner.[2] Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.[1]
Last updated: 12/4/2015

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
Arthralgia
Joint pain
0002829
Barrel-shaped chest
Barrel chest
0001552
Disproportionate short stature 0003498
Platyspondyly
Flattened vertebrae
0000926
Short thorax
Shorter than typical length between neck and abdomen
0010306
Spondyloepiphyseal dysplasia 0002655
Thoracic kyphosis 0002942
Upper limb undergrowth
Short arms
Shortening of the arms
[ more ] 		0009824
30%-79% of people have these symptoms
Coxa vara 0002812
Hip osteoarthritis 0008843
Hypoplasia of the odontoid process 0003311
Hypoplastic iliac wing 0002866
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Scoliosis 0002650
Short neck
Decreased length of neck
0000470
Percent of people who have these symptoms is not available through HPO
Arthritis
Joint inflammation
0001369
Autosomal dominant inheritance 0000006
Avascular necrosis of the capital femoral epiphysis 0005743
Cervical subluxation 0003308
Childhood-onset short-trunk short stature
Disproportionate short-trunk short stature, identifiable in childhood
Short-trunk dwarfism identifiable during childhood
[ more ] 		0008922
Hip pain 0030838
Irregular vertebral endplates 0003301
Knee pain 0030839
Kyphoscoliosis 0002751
Malar flattening
Zygomatic flattening
0000272
Pectus carinatum
Pigeon chest
0000768
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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 Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • 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 Autosomal dominant spondyloepiphyseal dysplasia tarda. 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 Autosomal dominant spondyloepiphyseal dysplasia tarda:
    International Skeletal Dysplasia Registry (ISDR)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

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.

Where to Start

  • KidsHealth from Nemours has an information page on Autosomal dominant spondyloepiphyseal dysplasia tarda. Click on the link to access this resource.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal dominant spondyloepiphyseal dysplasia tarda. Click on the link to view a sample search on this topic.

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. Shital Parikh, MD; Chief Editor: Dennis P Grogan, MD. Spondyloepiphyseal Dysplasia. Medscape Reference. November 2015; http://emedicine.medscape.com/article/1260836-overview.
  2. SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT. OMIM. 2014; http://www.omim.org/entry/184100.