Spondyloepiphyseal Dysplasia Congenita (SEDc)
SEDc is a rare genetic disorder that results in short stature and skeletal abnormalities that primarily affect the spine and long bones of the arms and legs. SEDc is a form of dwarfism.
Causes
Spondyloepiphyseal dysplasia congenita can be inherited, but in most cases it occurs with a change or mutation in a gene.
Symptoms
Common signs and symptoms related to SEDc are:
Short trunk
Small mouth
Scoliosis
Hip deformity
Bowed knees
Respiratory problems
Problems with vision and hearing
Facial feature deformities such as cleft palate
Premature arthritis
Deformities in the feet, legs, back or chest
Diagnosis
To determine if your child has SEDC, your expert doctor may perform one or a combination of tests. These tests may include:
Imaging tests such as X-rays, CT scans and MRIs
Bone scans
Physical exam
Neurological exam
Arthrogram
Treatment
Our expert doctors will determine the best course of treatment based on multiple factors. Treatment for children with SEDc varies greatly because the condition can affect several different body systems.
Possible non-surgical treatments our doctors may offer or recommend to treat your child’s SEDc include:
Bracing
Casting
Eye glasses
Hearing aids
Medication
Physical therapy
If our doctors and surgeons believe surgery is the best option for you child, we may recommend procedures such as:
Spinal fusions