All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts. More to Know Spondyloepiphyseal dysplasias are genetic conditions that affect the development of bones in the spine vertebrae and the ends of long bones that are near the joints. Changes in the spinal bones vertebrae in the neck may also increase the risk of spinal cord damage. This type of dwarfism is characterized by a normal spinal column length relative to the femur bone. SED congenita, in which short stature is apparent at birth.
Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. More to Know Spondyloepiphyseal dysplasias are genetic conditions that affect the development of bones in the spine vertebrae and the ends of long bones that are near the joints. SED also can be associated with vision and hearing problems, clubfeet , cleft palate , arthritis, and difficulty with the respiratory system as the spine curvature becomes worse. All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts. Medical texts often state a mild and variable change to facial features, including cheekbones close to the nose appearing flattened, although this appears to be unfounded. Their hands and feet, however, are usually average-sized. Most cases of SED are due to a random mutation in the genes, but the condition can be inherited from a parent. Other skeletal signs include flattened vertebrae platyspondyly , a hip joint deformity in which the upper leg bones turn inward coxa vara , and an inward- and downward-turning foot called clubfoot. This results in short stature with a very short trunk and limbs, although hands and feet may be more average-sized. Treatment for SED involves treating complications like vision loss and spinal curvature as they arise. Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition. About one-quarter of people with this condition have mild to moderate hearing loss. Decreased joint mobility and arthritis often develop early in life. Curvature of the spine kypho scoliosis and lordosis progresses during childhood and can cause problems with breathing. SED congenita, in which short stature is apparent at birth. People with SED may require regular monitoring by doctors to help prevent and treat complications. This type of dwarfism is characterized by a normal spinal column length relative to the femur bone. Presentation[ edit ] People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs. Severe nearsightedness high myopia is sometimes present, as are other eye problems that can affect vision such as detached retinas. Both types are caused by mutations in genes that are responsible for making proteins the body needs to form cartilage and bone. The protein made by this gene forms type II collagen , a molecule found mostly in cartilage and in the clear gel that fills the eyeball the vitreous. Changes in the spinal bones vertebrae in the neck may also increase the risk of spinal cord damage. People with SED usually have barrel chests, short necks, and abnormal curvature of the spine that may get worse as they age. Adult height ranges from 0.
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