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
