Autosomal dominant spondyloepiphyseal dysplasia tarda
Other Names for this Disease
- Spondyloepiphyseal dysplasia tarda
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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. 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. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.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
Last updated: 12/4/2015
- Shital Parikh, MD; Chief Editor: Dennis P Grogan, MD. Spondyloepiphyseal Dysplasia. Medscape Reference. November 2015; http://emedicine.medscape.com/article/1260836-overview.
- SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT. OMIM. 2014; http://www.omim.org/entry/184100.
- KidsHealth from Nemours has an information page on Autosomal dominant spondyloepiphyseal dysplasia tarda. Click on the link to access this resource.
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- 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.
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