Spondylometaphyseal Dysplasia
Spondylometaphyseal Dysplasia Causes
The cause of spondylometaphyseal dysplasia is mutations in the COL2A1 gene, responsible for forming type II collagen; which 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.
Spondylometaphyseal Dysplasia Definition
Spondylometaphyseal dysplasia is a rare inherited bone growth disorder that leads to dwarfism, skeletal abnormalities, and visual problems. 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 two regions near the ends of bones.
Spondylometaphyseal Dysplasia Symptoms and Signs
Characteristic symptoms resemble those of spondyloepiphyseal dysplasia, congenital type which include: short stature evident from birth, short trunk and shortened limbs. Skeletal signs and symptoms are noticeable as the disorder progresses including spine curvature which can either be scoliosis or lumbar lordosis, flattened vertebrae, severely protruding breast bone, 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 retina detachment.