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Disease Profile

Autosomal dominant spondyloepiphyseal dysplasia tarda

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Adolescent

ICD-10

Q77.7

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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]

Symptoms

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.

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
Do you have updated information on this disease? We want to hear from you.

Organizations

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

      Learn more

      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.

          References

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