Spondyleopiphyseal Dysplasia, Congenital (SEDC)
What is spondyleopiphyseal dysplasia, congenital (SEDC)?
Spondyleopiphyseal dysplasia, congenital (SEDC) is a rare genetic disorder that is part of a group of disorders known as skeletal dysplasia, which are all characterized by abnormal growth or development of the cartilage or bone. Specifically, SECD is characterized by prenatal deformities in a baby, including skeletal and joint malformations in the spine, hips, and knees, as well as abnormalities that affect the eyes. These growth deformities overall lead to children being shorter than normal (i.e. dwarfism
What causes spondyleopiphyseal dysplasia, congenital (SEDC)?
SEDC is caused by mutations in the type II collagen (COL2A1) gene. Although these mutations are inherited in an autosomal dominant manner, most causes occur due to a new (de novo) mutation in patients that have no family history of the disorder.
What are the symptoms of spondyleopiphyseal dysplasia, congenital (SEDC)?
Because SEDC is congenital, the signs of the disorder are noticeable at birth, but the specific symptoms and their severity can vary greatly from one person to another. Even so, the following symptoms are common in individuals affected by SEDC:
- Growth deficiency, resulting in a disproportionate short stature
- Spinal malformations, such as lumbar lordosis and kyphosis, which are an abnormal forward curvature of the spine and an abnormal roundback, respectively
- Stiffness and diminished joint mobility at the knees, elbows, and hips
- Physical abnormalities, including, but not limited to, a broad, barrel-shaped chest, clubfeet, flat face, and/or limited extension of the arms and legs
- Diminished muscle tone and muscle weakness
- Abnormal gait, exhibited by a “waddling” manner of walking
- Severe nearsightedness or progressive sensorineural hearing loss
- Breathing difficulties
How is spondyleopiphyseal dysplasia, congenital (SEDC) diagnosed?
A diagnosis of SEDC is usually suspected at birth from an observation of the characteristic findings of the disorder. This diagnosis is usually confirmed after a detailed patient and family history and a variety of specialized tests. These specialized tests can include basic X-rays and MRI and CT scans to detect skeletal changes, and molecular genetic testing to detect SEDC gene mutations.
What are the available treatments for spondyleopiphyseal dysplasia, congenital (SEDC)?
Treatment for SEDC is symptomatic and supportive. Standard physical therapy can help patients improve joint motion and avoid muscle atrophy. In other cases, surgery can help achieve better physical positioning, treat debilitating physical malformations, and to increase the range of motion in joints. Some examples of these types of surgery are spinal fusion surgery and/or “growing rod” implantation. Corrective lenses or surgery and hearing aids can help patients combat severe nearsightedness or hearing loss, respectively.
Where can I find more information on spondyleopiphyseal dysplasia, congenital (SEDC)?