has characteristic has characteristic Autosomal dominant inheritance autosomal dominant disease spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia tarda, autosomal dominant https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda https://www.malacards.org/card/spondyloepiphyseal_dysplasia_tarda_autosomal_dominant_2 MONDO:0008474 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. spondyloepiphyseal dysplasia tarda, autosomal dominant OMIM:184100 DOID:0112285 MESH:C566658 MEDGEN:355785 UMLS:C1866717 GARD:0010624 spondyloepiphyseal dysplasia tarda