Autosomal dominant spondyloepiphyseal dysplasia tarda

Definition

Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth.

Cause

Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

As the name suggests, the condition is inherited in an autosomal dominant manner.

Signs and symptoms

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
• Arthralgia(Joint pain)
• Barrel-shaped chest(Barrel chest)
• Disproportionate short stature
• Platyspondyly(Flattened vertebrae)
• Short thorax(Shorter than typical length between neck and abdomen)
• Spondyloepiphyseal dysplasia
• Thoracic kyphosis
• Upper limb undergrowth(Short arms)

30%-79% of people have these symptoms

• Coxa vara
• Hip osteoarthritis
• Hypoplasia of the odontoid process
• Hypoplastic iliac wing
• Lumbar hyperlordosis(Excessive inward curvature of lower spine)
• Scoliosis
• Short neck(Decreased length of neck)

Treatment

Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.

NIH genetic and rare disease info

• NIH info on Autosomal dominant spondyloepiphyseal dysplasia tarda

Autosomal dominant spondyloepiphyseal dysplasia tarda is a rare disease.

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