Spondyloepiphyseal Dysplasia Congenita (SEDc)

Spondyloepiphyseal dysplasia congenita (SEDc) is a rare form of dwarfism. It results in short stature and skeletal abnormalities that primarily affect the spine and long bones of the arms and legs.

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

See more information

Skeletal Dysplasia