Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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OMIM 57 184100 MedGen 42 C1866717

SNOMED-CT via HPO 69 263681008 95427009 205101001 3723001 24228002 405773007 111255008 240241003 more UMLS 73 C1866717

NIH Rare Diseases : ⁵³ 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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