spondyloepiphyseal dysplasia tarda, autosomal dominant
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.
MONDO:0007738
spondyloepiphyseal dysplasia with congenital joint dislocations
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0019667
spondyloepiphyseal dysplasia tarda
is_a
spondyloepiphyseal dysplasia tarda, autosomal dominant
exact