Spondyloepiphyseal dysplasia congenita is a rare genetic disorder that involves spinal and epiphyseal enlargement (enlargement of the area at the end of the long bones). Classified as a type 2 collagen defect, it affects a structure of connective tissue (collagen) that supports many parts of the body.

Spondyloepiphyseal dysplasia congenita can be inherited with an autosomal dominant gene, which means one parent passes the gene to the child. But many patients acquire the disease because of a new mutation, or a new change in a gene.

What are the symptoms of spondyloepiphyseal dysplasia congenita?

• Height usually of 35.5 to 49 inches
• Short trunk and extremities
• Small mouth
• Scoliosis (curvature of the spine) and kyphosis (rounding of the spine), usually developing before the teenage years
• Back pain, which is common
• Varus hips — inward angulation of the ends of the bones — leading to hip contractures
• Varus or bowed knees
• Equiovarus feet (turned down and under)
• Neck problems (common) due to incomplete or underdeveloped vertebrae
• Respiratory problems in infants because of a small chest
• Eye problems (common), such as retinal detachment
• Premature arthritis in the hips

Diagnosis of Spondyloepiphyseal Dysplasia Congenita

A doctor makes a diagnosis of spondyloepiphyseal dysplasia congenita with a complete medical history, physical examination, careful neurological exam and diagnostic tests.

Diagnostic procedures may include:

• X-rays of the neck, spine, lower extremities and pelvis
• MRI scans of the spinal cord to assess if the cord is being compressed
• Arthrograms, during which a dye is injected in the hips to assess the cartilage

Treatment of Spondyloepiphyseal Dysplasia Congenita

Treatment for spondyloepiphyseal dysplasia congenita varies depending on the associated orthopaedic conditions and may include:

• Cervical fusion and possible decompression of cervical spine (neck) — may require halo and vest
• Bracing for scoliosis and kyphosis, if caught early
• Spinal fusion for scoliosis and kyphosis
• Osteotomy of the hips to correct misalignment and/or subluxation (partial dislocation and hip flexion contractures)
• Casting for foot deformities
• Customized total joint replacements

Bracing for Scoliosis

Watch on YouTube -

Nora, a 14-year-old teenager, describes her everyday experience wearing a brace to correct scoliosis. “It was kind of hard getting used to it, but I see this as an alternative to surgery, which really motivated me,” says Nora. Once you get used to it, she says, it’s just like wearing a coat or a shirt.