SED - Spondyloepiphyseal Dysplasia

Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth.

People with spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. Adult height ranges from 3 feet to just over 4 feet. Abnormal curvature of the spine (kyphoscoliosis and lordosis) becomes more severe during childhood and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage.
Other skeletal features include flattened vertebrae (platyspondyly); an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and a foot deformity called a clubfoot. Arthritis and decreased joint mobility often develop early in life.

People with spondyloepiphyseal dysplasia congenita have mild changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth (a cleft palate). Severe nearsightedness (high myopia) is common, as are other eye problems that can impair vision. About one quarter of people with this condition have hearing loss.

How common is spondyloepiphyseal dysplasia congenita?

This condition is rare; the exact incidence is unknown. More than 175 cases have been reported in the scientific literature.

 

For more resources and additional details, please visit The Genetics Home Reference

"Spondyloepiphyseal Dysplasia." Genetic Conditions. 2013. <http://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita;>



Contact Us Online

Office Hours

Our office is closed during most major holidays.

  • Monday: 8am – 5pm
  • Tuesday: 8am – 5pm
  • Wednesday: 8am – 5pm
  • Thursday: 8am – 5pm
  • Friday: 8am – 5pm
  • Weekends: Closed