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Spondyloepiphyseal dysplasia (SEDC) is a rare genetic condition that affects spinal formation and bone growth, leading to dwarfism. It may also cause impaired vision, decreased muscle tone, and spinal curvature. Treatment focuses on relieving symptoms, and corrective surgical procedures may be used. Individuals with SEDC should receive adequate support, exercise, and a proper diet. Infants may experience delayed development, and adults are more prone to developing arthritis, obesity, and a progressive curvature of the spine. Women with SEDC who become pregnant have a higher risk of developing breathing problems during pregnancy and may require a cesarean delivery.
Spondyloepiphyseal dysplasia, also known as spondyloepiphyseal dysplasia congenita (SEDC), is a rare genetic condition that adversely affects spinal formation in utero and inhibits bone growth, creating a deficiency leading to dwarfism. Individuals affected by spondyloepiphyseal dysplasia may also experience additional conditions which include impaired vision, decreased muscle tone, and curvature of the spine. Treatment for SEDC generally focuses on relieving symptoms associated with complications rather than increasing height.
Considered the most frequent cause of the development of disproportionate dwarfism, SEDC generally affects only physical development and does not impair one’s intellectual or cognitive abilities. Individuals with SEDC generally have a large head in proportion to their body, a medium-sized torso, and shortened limbs. In some cases, those with SEDC may have a short trunk and small limbs, but they are considered large in proportion to the rest of the body. There are several signs and symptoms that an individual with SEDC can exhibit.
An average adult with spondyloepiphyseal dysplasia usually matures to a little over four feet tall. Abnormal bone development, characterized by flattened cheekbones, hip deformities causing an inward curvature of the thigh bones and progressive kyphoscoliosis, or curvature of the upper spine, are common signs associated with spondyloepiphyseal dysplasia. Additional features of this disorder may include clubfeet, average-sized feet and hands, and impaired sensory perception associated with hearing and vision.
A diagnosis of spondyloepiphyseal dysplasia is usually made in early childhood. During routine exams, the child’s height, head circumference and weight are recorded and plotted on a graph used to categorize developmental milestones. If your child’s development appears to be delayed or out of proportion, your pediatrician may order more frequent measurements to closely monitor your child’s development. When a pediatrician suspects your child has SEDC, she may refer your child to other pediatricians whose specialties include genetic conditions and bone abnormalities. In order to rule out the presence of any secondary conditions, genetic testing may be done and magnetic resonance imaging (MRI) or X-rays may be used to determine the location and extent of any delayed or impaired bone development.
There are several corrective surgical procedures that can be used to relieve the symptoms associated with SEDC. Procedures such as implanting growth plates, straightening limbs, using rods to correct spinal curvature, and relieving spinal cord pressure by altering the formation of vertebrae are commonly performed. Some individuals may undergo a limb lengthening procedure that involves dividing the longest bones into sections. Metal posts, or scaffolds, are driven between sections of bone and held in place with screws and pins that allow the bone to grow together, lengthening it.
Children with spondyloepiphyseal dysplasia should receive adequate head, neck, and back support when sitting to promote good posture. Individuals with SEDC are encouraged to pursue healthful activities and exercise to maintain appropriate muscle tone. A proper diet is recommended not only for its health benefits but also as a preventative measure to avoid problems with obesity in adulthood.
Infants with SEDC may experience delayed development, such as difficulty sitting or walking. Additional complications associated with this condition include chronic ear infections, sleep apnea, and fluid collection around the brain, a condition known as hydrocephalus. Adults with SEDC are more prone to developing arthritis, obesity, and a progressive curvature of the spine with age. Women with SEDC who become pregnant have a higher risk of developing breathing problems during pregnancy and may require a cesarean delivery.
