Spondyloepiphyseal Dysplasia, Congenital Type
Spondyloepiphyseal Dysplasia, Congenital Type Causes
Spondyloepiphyseal dysplasia, congenital type is caused by mutations in the COL2A1 gene, obstructing the gathering of type II collagen molecules.When this occurs normal bone development would be impossible; thus cause the signs and symptoms of Spondyloepiphyseal dysplasia, congenital type. The condition is inherited in an autosomal dominant pattern of inheritance.
Spondyloepiphyseal Dysplasia, Congenital Type Definition
Spondyloepiphyseal dysplasia, congenital type 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 which is present at birth.
Spondyloepiphyseal Dysplasia, Congenital Type 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.