Free Online Database Of Diseases, Illnesses & Ailments


Spondyloepiphyseal Dysplasia

Spondyloepiphyseal Dysplasia Causes

The cause of spondyloepiphyseal dysplasia is mutations in the COL2A1 gene, responsible for forming type II collagen. This protein is necessary for normal bone and connective tissue development. Spondyloepiphyseal dysplasia is inherited in an autosomal dominant pattern of inheritance, meaning one copy of altered gene is enough to cause the disorder.

Spondyloepiphyseal Dysplasia Definition

Spondyloepiphyseal dysplasia is a rare genetic bone growth disorder that leads to dwarfism, skeletal abnormalities, and in some cases visual and auditory disturbances. As the name of the disease suggests, this rare medical condition can be defined as a disease that affects the bone of the spine and the ends of bones and is actually presented at birth.

Spondyloepiphyseal Dysplasia Symptoms and Signs

Characteristic symptoms include: short stature evident from birth, short trunk, short neck, shortened limbs. Skeletal signs and symptoms are noticeable as the disorder progresses including spine curvature which can either be Kyphoscoliosis or lordosis, flattened vertebrae, upper legs turning inward, clubfoot, and arthritis and decreased joint mobility and in some cases changes in the facial features may occur including the tendency for the cheekbone close to the nose to be flattened. In some cases, infants born with this condition often have cleft palate. Other remarkable manifestations include severe nearsightedness and other vision problems in addition to hearing problems.

Most Viewed Pages

Recent Searches

Our Visitors Ask About

Medical News