Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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OMIM 58 184100 MedGen 43 C1866717

SNOMED-CT via HPO 70 111255008 202490009 205101001 240241003 24228002 247373008 263681008 285365001 30989003 3723001 405773007 49218002 95427009 more UMLS 74 C1866717

NIH Rare Diseases : ⁵⁴ 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. 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.

MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant, is also known as autosomal dominant spondyloepiphyseal dysplasia tarda, and has symptoms including bilateral knee pain An important gene associated with Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant is SPDT (Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant). Affiliated tissues include bone, and related phenotypes are malar flattening and short neck

Description from OMIM: 184100

Clinical features from OMIM:

184100

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